ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5837G>A (p.Arg1946His)

dbSNP: rs376984823
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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 RCV001878368 SCV002119466 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482484 SCV002778895 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-04 criteria provided, single submitter clinical testing

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