ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1788C>T (p.Ala596=)

gnomAD frequency: 0.00007  dbSNP: rs147877708
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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 RCV001442620 SCV001645571 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501558 SCV002804508 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-09 criteria provided, single submitter clinical testing

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