ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3275T>C (p.Phe1092Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004795171 SCV005415270 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates 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 3503T>C

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