ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.270T>C (p.Ile90=)

dbSNP: rs1555596670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637958 SCV000759438 likely benign Hereditary breast ovarian cancer syndrome 2021-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424406 SCV002740990 likely benign Hereditary cancer-predisposing syndrome 2021-02-26 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 RCV001073070 SCV001238562 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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