ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.145T>C (p.Ser49Pro)

dbSNP: rs1397714230
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336539 SCV001529945 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2018-11-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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