ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9116C>A (p.Pro3039Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003325906 SCV004032000 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 9344C>A; This variant is associated with the following publications: (PMID: 12228710)

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