ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6754T>C (p.Ser2252Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003323239 SCV004028398 uncertain significance not provided 2023-02-21 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 6982T>C; This variant is associated with the following publications: (PMID: 29884841)

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