ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2041G>T (p.Val681Leu)

dbSNP: rs1347965086
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776842 SCV002013727 uncertain significance not provided 2021-01-26 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; This variant is associated with the following publications: (PMID: 31070086)

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