ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6925A>C (p.Ser2309Arg)

dbSNP: rs2137537371
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776414 SCV002012952 uncertain significance not provided 2020-10-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 7153A>C

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