ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3271T>G (p.Leu1091Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005052723 SCV005686245 uncertain significance not provided 2024-07-22 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 3499T>G

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