ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3730A>T (p.Ile1244Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004592201 SCV005081457 uncertain significance not provided 2023-12-10 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 3958A>T

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