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ClinVar

ClinVar, NCBI's public archive of human genetic variants and their clinical classifications (4.7 million records), through NCBI E-utilities. Search variants by gene, HGVS name, rsID, canonical SPDI, condition or free text, filtered by germline classification, review status or star rating, variant type and molecular consequence; read one variant by VCV accession, variation ID, ClinVar URL, rsID or HGVS with its aggregate germline classification, somatic clinical impact and oncogenicity, review status and stars, conditions with MedGen, OMIM, MONDO, Orphanet and HPO IDs, per-condition RCV aggregates, and each submitter's classification with criteria, allele origin, method and cited PMIDs. Every output carries ClinVar's citation and its clinical-use disclaimer.

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ClinVar
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1Request
stringRequired

`VCV000017661`, `VCV000017661.165`, `17661`, `https://www.ncbi.nlm.nih.gov/clinvar/variation/17661/`, `rs28897672` (when it names one variation), `NM_007294.4(BRCA1):c.181T>G`, `BRCA1 c.181T>G`, `NC_000017.11:43106486:A:C`, `RCV000019229` or `CA001182`.

number

Submissions to list; `submissions_total` counts all.

5 credits
Codefollows the fields above
const result = await firecrawl.scrape({
  alexandria: {
    provider: "clinvar-ncbi-nlm-nih-gov",
    capability: "variants/get",
    options: {
      variant: "VCV000017661",
    },
  },
});
2Response example

This is a sample shape. Press Run to see live data from ClinVar.

{
  "license": {
    "attribution": "Data from ClinVar, National Center for Biotechnology Information, U.S. National Library of Medicine (https://www.ncbi.nlm.nih.gov/clinvar/). Cite ClinVar, e.g. Landrum MJ et al., Nucleic Acids Res. 2018;46(D1):D1062-D1067 (PMID: 29165669).",
    "disclaimer": "ClinVar's information is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. NIH does not independently verify the submitted information.",
    "name": "Public domain (NCBI)",
    "rights": "NCBI places no restrictions on the use or distribution of its molecular data; some submitters may claim rights in the data they submitted.",
    "terms_url": "https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/",
    "url": "https://www.ncbi.nlm.nih.gov/home/about/policies/"
  },
  "observed_at_ms": 1793396497661,
  "rcv_total": 14,
  "rcvs": [
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C2676676"
          ],
          "name": "Breast-ovarian cancer, familial, susceptibility to, 1"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2015-08-10",
        "review_status": "reviewed by expert panel",
        "stars": 3,
        "submission_count": 27
      },
      "oncogenicity": null,
      "rcv_accession": "RCV000019229",
      "version": 63
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C0677776"
          ],
          "name": "Hereditary breast ovarian cancer syndrome"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2026-02-03",
        "review_status": "criteria provided, multiple submitters, no conflicts",
        "stars": 2,
        "submission_count": 10
      },
      "oncogenicity": null,
      "rcv_accession": "RCV000047597",
      "version": 44
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C0027672"
          ],
          "name": "Hereditary cancer-predisposing syndrome"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2025-03-11",
        "review_status": "criteria provided, multiple submitters, no conflicts",
        "stars": 2,
        "submission_count": 4
      },
      "oncogenicity": null,
      "rcv_accession": "RCV000131902",
      "version": 25
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C3661900"
          ],
          "name": "not provided"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2026-03-01",
        "review_status": "criteria provided, multiple submitters, no conflicts",
        "stars": 2,
        "submission_count": 19
      },
      "oncogenicity": null,
      "rcv_accession": "RCV000159935",
      "version": 88
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C0346153"
          ],
          "name": "Familial cancer of breast"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2025-11-24",
        "review_status": "criteria provided, multiple submitters, no conflicts",
        "stars": 2,
        "submission_count": 4
      },
      "oncogenicity": null,
      "rcv_accession": "RCV000239114",
      "version": 16
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C1458155"
          ],
          "name": "Breast neoplasm"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": null,
        "review_status": "criteria provided, single submitter",
        "stars": 1,
        "submission_count": 1
      },
      "oncogenicity": null,
      "rcv_accession": "RCV000412714",
      "version": 10
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C0678222"
          ],
          "name": "Breast carcinoma"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2022-10-24",
        "review_status": "criteria provided, single submitter",
        "stars": 1,
        "submission_count": 2
      },
      "oncogenicity": null,
      "rcv_accession": "RCV000415051",
      "version": 11
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C0919267"
          ],
          "name": "Ovarian neoplasm"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2018-12-01",
        "review_status": "no assertion criteria provided",
        "stars": 0,
        "submission_count": 1
      },
      "oncogenicity": null,
      "rcv_accession": "RCV000785199",
      "version": 10
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:CN221562"
          ],
          "name": "Breast and/or ovarian cancer"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2019-06-11",
        "review_status": "no assertion criteria provided",
        "stars": 0,
        "submission_count": 1
      },
      "oncogenicity": null,
      "rcv_accession": "RCV001270967",
      "version": 9
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:CN377757"
          ],
          "name": "BRCA1-related cancer predisposition"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2024-07-29",
        "review_status": "criteria provided, single submitter",
        "stars": 1,
        "submission_count": 1
      },
      "oncogenicity": null,
      "rcv_accession": "RCV004802937",
      "version": 1
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C2676676"
          ],
          "name": "Breast-ovarian cancer, familial, susceptibility to, 1"
        },
        {
          "ids": [
            "MedGen:C4554406"
          ],
          "name": "Fanconi anemia, complementation group S"
        },
        {
          "ids": [
            "MedGen:C3280442"
          ],
          "name": "Pancreatic cancer, susceptibility to, 4"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2024-04-22",
        "review_status": "criteria provided, single submitter",
        "stars": 1,
        "submission_count": 1
      },
      "oncogenicity": null,
      "rcv_accession": "RCV005003390",
      "version": 1
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [],
          "name": "Inherited ovarian cancer (without breast cancer)"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2025-09-25",
        "review_status": "criteria provided, single submitter",
        "stars": 1,
        "submission_count": 1
      },
      "oncogenicity": null,
      "rcv_accession": "RCV005646760",
      "version": 1
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [],
          "name": "Inherited breast cancer and ovarian cancer"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2026-08-05",
        "review_status": "criteria provided, multiple submitters, no conflicts",
        "stars": 2,
        "submission_count": 2
      },
      "oncogenicity": null,
      "rcv_accession": "RCV006748266",
      "version": 2
    },
    {
      "clinical_impact": null,
      "conditions": [
        {
          "ids": [],
          "name": "BRCA1-related disorder"
        }
      ],
      "germline_classification": {
        "classification": "Pathogenic",
        "last_evaluated": "2026-06-17",
        "review_status": "criteria provided, multiple submitters, no conflicts",
        "stars": 2,
        "submission_count": 2
      },
      "oncogenicity": null,
      "rcv_accession": "RCV006879033",
      "version": 2
    }
  ],
  "record": {
    "date_created": "2015-09-29",
    "date_last_updated": "2026-10-18",
    "germline_explanation": "Pathogenic (1)",
    "most_recent_submission": "2026-10-10",
    "record_status": "current",
    "record_type": "classified",
    "replaced_by": null,
    "replaces": [],
    "submission_count": 77,
    "submitter_count": 71,
    "version": 165
  },
  "resolution": {
    "input": "VCV000017661",
    "matched_on": "vcv_accession",
    "note": null,
    "requested_version": null
  },
  "submissions": [
    {
      "assertion_method": "ENIGMA BRCA1/2 Classification Criteria (2015)",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "OMIM:604370",
            "MedGen:C2676676"
          ],
          "name": "Breast-ovarian cancer, familial 1"
        }
      ],
      "contributes_to_aggregate": true,
      "last_evaluated": "2015-08-10",
      "methods": [
        "curation"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [
        "21990134"
      ],
      "record_status": "current",
      "review_status": "reviewed by expert panel",
      "scv_accession": "SCV000244308",
      "scv_version": 1,
      "stars": 3,
      "submitted": "2015-08-17",
      "submitter": "Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)",
      "submitter_org_id": "504863"
    },
    {
      "assertion_method": "CanVIG BRCA Gene Specific V1.22",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [],
          "name": "Inherited breast cancer and ovarian cancer"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2026-08-05",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV008086739",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2026-10-04",
      "submitter": "Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub",
      "submitter_org_id": "509173"
    },
    {
      "assertion_method": "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [],
          "name": "Inherited breast cancer and ovarian cancer"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2026-07-06",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV007664727",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2026-08-11",
      "submitter": "Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service",
      "submitter_org_id": "288359"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "OMIM:604370",
            "MedGen:C2676676"
          ],
          "name": "Breast-ovarian cancer, familial, susceptibility to, 1"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2026-06-29",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "unknown"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV001251421",
      "scv_version": 12,
      "stars": 1,
      "submitted": "2026-07-17",
      "submitter": "Institute of Human Genetics, University of Leipzig Medical Center",
      "submitter_org_id": "506086"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [],
          "name": "BRCA1-related condition"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2026-06-17",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV008017038",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2026-09-29",
      "submitter": "PreventionGenetics, part of Exact Sciences",
      "submitter_org_id": "239772"
    },
    {
      "assertion_method": "CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:CN517202",
            "MedGen:C3661900"
          ],
          "name": "not provided"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2026-03-01",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV001249217",
      "scv_version": 39,
      "stars": 1,
      "submitted": "2026-07-04",
      "submitter": "CeGaT Center for Human Genetics Tuebingen",
      "submitter_org_id": "505870"
    },
    {
      "assertion_method": "Invitae Variant Classification Sherloc (09022015)",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C0677776"
          ],
          "name": "Hereditary breast ovarian cancer syndrome"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2026-02-03",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [
        "7894493",
        "10788334",
        "20180014",
        "21324516",
        "19594371",
        "20345474",
        "20507347",
        "20569256",
        "30209399",
        "9525870",
        "11278247",
        "22172724",
        "22843421",
        "23161852",
        "23867111"
      ],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV000075610",
      "scv_version": 19,
      "stars": 1,
      "submitted": "2026-02-06",
      "submitter": "Labcorp Genetics (formerly Invitae), Labcorp",
      "submitter_org_id": "500031"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C3661900"
          ],
          "name": "not provided"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2025-12-29",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [
        "20180014",
        "29339979",
        "23199084",
        "9525870",
        "30209399"
      ],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV002551068",
      "scv_version": 8,
      "stars": 1,
      "submitted": "2025-12-30",
      "submitter": "Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital",
      "submitter_org_id": "505691"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "OMIM:114480",
            "MedGen:C0346153"
          ],
          "name": "Familial cancer of breast"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2025-11-24",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "maternal"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV002765087",
      "scv_version": 2,
      "stars": 1,
      "submitted": "2025-12-05",
      "submitter": "Institute of Human Genetics, University of Leipzig Medical Center",
      "submitter_org_id": "506086"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [],
          "name": "Inherited ovarian cancer (without breast cancer)"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2025-09-25",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV006336692",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2025-09-25",
      "submitter": "NHS Central & South Genomic Laboratory Hub",
      "submitter_org_id": "509539"
    },
    {
      "assertion_method": "Hauer et al. (Genet Med. 2018)",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:CN517202",
            "MedGen:C3661900"
          ],
          "name": "not provided"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2025-08-04",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV006303525",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2025-08-04",
      "submitter": "Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg",
      "submitter_org_id": "505150"
    },
    {
      "assertion_method": "DASA Assertion Criteria",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C2676676"
          ],
          "name": "Breast-ovarian cancer, familial, susceptibility to, 1"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2025-07-29",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [
        "32741062",
        "30209399",
        "9525870",
        "11278247",
        "22172724",
        "23161852",
        "7894493"
      ],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV007599474",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2026-05-15",
      "submitter": "Dasa",
      "submitter_org_id": "508087"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C2676676"
          ],
          "name": "Breast-ovarian cancer, familial, susceptibility to, 1"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2025-07-25",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV007540194",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2026-03-25",
      "submitter": "Helix",
      "submitter_org_id": "510263"
    },
    {
      "assertion_method": "Ambry Variant Classification Scheme 2023",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C0027672"
          ],
          "name": "Hereditary cancer-predisposing syndrome"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2025-03-11",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [
        "16227521",
        "21990165",
        "23199084",
        "25782689",
        "27153395",
        "27433846",
        "28324225",
        "28423363",
        "28477318",
        "29433453",
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        "30209399"
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      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV000186957",
      "scv_version": 9,
      "stars": 1,
      "submitted": "2025-04-14",
      "submitter": "Ambry Genetics",
      "submitter_org_id": "61756"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Pathogenic",
      "classification_type": "germline",
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      "clinical_impact_type": null,
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        {
          "ids": [
            "MedGen:C0027672"
          ],
          "name": "Hereditary cancer-predisposing syndrome"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2025-03-10",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [
        "9525870",
        "10447273",
        "10788334",
        "11102977",
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        "11320250",
        "18243530",
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        "32885271"
      ],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV000292141",
      "scv_version": 6,
      "stars": 1,
      "submitted": "2025-04-29",
      "submitter": "Color Diagnostics, LLC DBA Color Health",
      "submitter_org_id": "505849"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C3661900"
          ],
          "name": "not provided"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2025-02-16",
      "methods": [
        "clinical testing"
      ],
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      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV006109959",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2025-06-13",
      "submitter": "Laboratory of Genetics, Children's Clinical University Hospital Latvia",
      "submitter_org_id": "509237"
    },
    {
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      "classification": "Pathogenic",
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      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [],
          "name": "BRCA1-related disorders"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2024-11-23",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV007843480",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2026-08-20",
      "submitter": "Blueprint Genetics",
      "submitter_org_id": "500188"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C3661900"
          ],
          "name": "not provided"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2024-11-22",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV002024711",
      "scv_version": 4,
      "stars": 1,
      "submitted": "2025-08-19",
      "submitter": "Revvity Omics, Revvity",
      "submitter_org_id": "167595"
    },
    {
      "assertion_method": "ClinGen BRCA1 V1.1.0",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "ORPHA:145",
            "MedGen:C0677776"
          ],
          "name": "Hereditary breast ovarian cancer syndrome"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2024-11-11",
      "methods": [
        "curation"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV005848150",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2025-02-17",
      "submitter": "German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne",
      "submitter_org_id": "506864"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Likely pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "OMIM:604370",
            "MedGen:C2676676"
          ],
          "name": "Breast-ovarian cancer, familial, susceptibility to, 1"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2024-09-28",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [
        "7894493",
        "19329713"
      ],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV006582311",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2025-10-10",
      "submitter": "3billion",
      "submitter_org_id": "507830"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MONDO:0700268",
            "MedGen:CN377757"
          ],
          "name": "BRCA1-related cancer predisposition"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2024-07-29",
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        "clinical testing"
      ],
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      "pmids": [
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        "9525870",
        "10447273",
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      ],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV004823691",
      "scv_version": 2,
      "stars": 1,
      "submitted": "2024-12-12",
      "submitter": "All of Us Research Program, National Institutes of Health",
      "submitter_org_id": "509529"
    },
    {
      "assertion_method": "Assertion Criteria Germline",
      "classification": "Pathogenic",
      "classification_type": "germline",
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      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MONDO:0003582",
            "MedGen:C0677776"
          ],
          "name": "Hereditary breast ovarian cancer syndrome"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2024-06-27",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [
        "26381082",
        "20103620"
      ],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV007097383",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2025-09-01",
      "submitter": "Department of Genomics, ADN Uruguay",
      "submitter_org_id": "510148"
    },
    {
      "assertion_method": "ARUP Molecular Germline Variant Investigation Process 2024",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C3661900"
          ],
          "name": "not provided"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2024-06-09",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [],
      "record_status": "current",
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      "scv_accession": "SCV000602706",
      "scv_version": 5,
      "stars": 1,
      "submitted": "2025-01-28",
      "submitter": "ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories",
      "submitter_org_id": "25969"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C2676676"
          ],
          "name": "Breast-ovarian cancer, familial, susceptibility to, 1"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2024-05-27",
      "methods": [
        "clinical testing"
      ],
      "origins": [
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      ],
      "pmids": [],
      "record_status": "current",
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      "scv_accession": "SCV005045920",
      "scv_version": 1,
      "stars": 1,
      "submitted": "2024-05-27",
      "submitter": "Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet",
      "submitter_org_id": "1147"
    },
    {
      "assertion_method": "ACMG Guidelines, 2015",
      "classification": "Pathogenic",
      "classification_type": "germline",
      "clinical_impact_significance": null,
      "clinical_impact_type": null,
      "conditions": [
        {
          "ids": [
            "MedGen:C3661900"
          ],
          "name": "Not provided"
        }
      ],
      "contributes_to_aggregate": false,
      "last_evaluated": "2024-04-30",
      "methods": [
        "clinical testing"
      ],
      "origins": [
        "germline"
      ],
      "pmids": [
        "10447273",
        "10788334",
        "11102977",
        "14986830",
        "15290653",
        "16168118",
        "18824701",
        "19770520",
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        "21990134",
        "24504028",
        "24728189",
        "27433846",
        "30209399",
        "31347298",
        "32546644",
        "7894493",
        "8644702"
      ],
      "record_status": "current",
      "review_status": "criteria provided, single submitter",
      "scv_accession": "SCV000778779",
      "scv_version": 2,
      "stars": 1,
      "submitted": "2024-12-17",
      "submitter": "Mayo Clinic Laboratories, Mayo Clinic",
      "submitter_org_id": "500068"
    }
  ],
  "submissions_total": 77,
  "variant": {
    "canonical_spdi": "NC_000017.11:43106486:A:C",
    "cdna_change": "c.181T>G",
    "clinical_impact": null,
    "gene_count": 1,
    "genes": [
      {
        "gene_id": "672",
        "hgnc_id": "HGNC:1100",
        "symbol": "BRCA1"
      }
    ],
    "germline_classification": {
      "classification": "Pathogenic",
      "conditions": [
        {
          "ids": [
            "ORPHA:145",
            "MedGen:C2676676",
            "MONDO:0011450",
            "OMIM:604370"
          ],
          "name": "Breast-ovarian cancer, familial, susceptibility to, 1"
        }
      ],
      "last_evaluated": "2015-08-10",
      "review_status": "reviewed by expert panel",
      "stars": 3
    },
    "location": {
      "grch37": {
        "chromosome": "17",
        "cytoband": "17q21.31",
        "start": 41258504,
        "stop": 41258504
      },
      "grch38": {
        "chromosome": "17",
        "cytoband": "17q21.31",
        "start": 43106487,
        "stop": 43106487
      }
    },
    "molecular_consequences": [
      "missense variant",
      "non-coding transcript variant"
    ],
    "name": "NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)",
    "oncogenicity": null,
    "protein_changes": [
      "C61G",
      "C14G"
    ],
    "record_status": "current",
    "rsids": [
      "rs28897672"
    ],
    "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/17661/",
    "submission_count": 77,
    "variant_type": "single nucleotide variant",
    "variation_id": "17661",
    "vcv_accession": "VCV000017661",
    "version": 165,
    "xrefs": [
      "BRCA1-HCI:BRCA1_00099",
      "ClinGen:CA001182",
      "UniProtKB:P38398#VAR_007757",
      "OMIM:113705.0002"
    ]
  }
}

Data from ClinVar, National Center for Biotechnology Information, U.S. National Library of Medicine. NCBI places no restrictions on its use; submitters may hold rights in their data. Cite Landrum MJ et al., Nucleic Acids Res. 2018;46(D1):D1062-D1067 (PMID 29165669). (https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/)

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