ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2793A>C (p.Gly931=)

dbSNP: rs786201315
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565459 SCV000665018 likely benign Hereditary cancer-predisposing syndrome 2016-09-09 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586053 SCV000694627 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV000920539 SCV001065908 likely benign Hereditary breast ovarian cancer syndrome 2022-10-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000565459 SCV002051834 likely benign Hereditary cancer-predisposing syndrome 2021-07-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000586053 SCV002071280 uncertain significance not specified 2019-10-09 criteria provided, single submitter clinical testing

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