ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.13G>A (p.Ala5Thr)

dbSNP: rs1597923713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005359855 SCV005914148 uncertain significance Fanconi anemia, complementation group S 2022-07-11 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV001076425 SCV001242180 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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