ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3224G>C (p.Ser1075Thr)

dbSNP: rs750986436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763683 SCV002001065 uncertain significance not provided 2020-06-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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

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