ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2013T>C (p.Ser671=)

dbSNP: rs1555282399
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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 RCV000573398 SCV000666067 likely benign Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health RCV000573398 SCV000913117 likely benign Hereditary cancer-predisposing syndrome 2018-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001403382 SCV001605252 likely benign Hereditary breast ovarian cancer syndrome 2024-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000980173 SCV001889217 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004802214 SCV005424310 likely benign BRCA2-related cancer predisposition 2024-08-06 criteria provided, single submitter clinical testing

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