ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8489G>C (p.Trp2830Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003231712 SCV003929702 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 8717G>C; This variant is associated with the following publications: (PMID: 12228710)

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