ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4863C>T (p.Leu1621=)

gnomAD frequency: 0.00003  dbSNP: rs951676471
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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 RCV000924788 SCV001070310 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502816 SCV002798593 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-11-16 criteria provided, single submitter clinical testing

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