ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1982G>A (p.Arg661Lys)

dbSNP: rs2053848136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002226313 SCV002505004 uncertain significance Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003157101 SCV003849582 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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