ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4823G>A (p.Arg1608His)

gnomAD frequency: 0.00003  dbSNP: rs199669141
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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 RCV001309638 SCV001499144 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486211 SCV002786715 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-24 criteria provided, single submitter clinical testing

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