ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3402C>T (p.Ser1134=)

dbSNP: rs1593899435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020214 SCV001181664 likely benign Hereditary cancer-predisposing syndrome 2019-09-19 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001199870 SCV001370609 likely benign not specified 2020-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001416734 SCV001618919 likely benign Hereditary breast ovarian cancer syndrome 2024-05-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803364 SCV005424379 likely benign BRCA2-related cancer predisposition 2024-08-13 criteria provided, single submitter clinical testing

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