ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4908G>A (p.Lys1636=)

dbSNP: rs1567774705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776812 SCV000912467 likely benign Hereditary cancer-predisposing syndrome 2017-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776812 SCV001185094 likely benign Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067344 SCV002361282 likely benign Hereditary breast ovarian cancer syndrome 2024-05-09 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV001072821 SCV001238269 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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