ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.4000G>A (p.Val1334Met)

dbSNP: rs2138604719
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774747 SCV002003107 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function

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