ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1942C>T (p.Pro648Ser)

gnomAD frequency: 0.00009  dbSNP: rs373669637
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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 RCV001056650 SCV001221103 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489646 SCV002778766 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-10-13 criteria provided, single submitter clinical testing

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