ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.4006-8C>A

gnomAD frequency: 0.00002  dbSNP: rs745486661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001569150 SCV000543942 likely benign not provided 2024-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001569150 SCV001793157 uncertain significance not provided 2020-11-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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