ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5133A>G (p.Lys1711=)

dbSNP: rs1597820025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985430 SCV001133613 uncertain significance not provided 2018-10-15 criteria provided, single submitter clinical testing
Invitae RCV002067566 SCV002361882 likely benign Hereditary breast ovarian cancer syndrome 2021-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337038 SCV002642270 likely benign Hereditary cancer-predisposing syndrome 2021-08-09 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.
Brotman Baty Institute, University of Washington RCV001072315 SCV001237674 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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