ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.81T>C (p.Cys27=) (rs587780805)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123288 SCV000166595 likely benign Hereditary breast and ovarian cancer syndrome 2020-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163586 SCV000214146 likely benign Hereditary cancer-predisposing syndrome 2014-10-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001281715 SCV000600440 likely benign not provided 2020-08-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163586 SCV000683368 likely benign Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000239077 SCV000297625 likely benign Breast-ovarian cancer, familial 1 2013-05-28 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000239077 SCV001241853 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro
King Laboratory,University of Washington RCV000506013 SCV001251290 benign not specified 2019-09-01 no assertion criteria provided research

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