ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2063C>T (p.Pro688Leu)

dbSNP: rs2141277985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001584638 SCV001812581 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing Not observed 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; This variant is associated with the following publications: (PMID: 27535533)
Centogene AG - the Rare Disease Company RCV001810101 SCV002059722 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2021-05-28 criteria provided, single submitter clinical testing

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