ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys)

gnomAD frequency: 0.00016  dbSNP: rs375325893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703767 SCV000832683 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764013 SCV000894965 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2018-10-31 criteria provided, single submitter clinical testing

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