ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys)

gnomAD frequency: 0.00004  dbSNP: rs371658961
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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 RCV001359414 SCV001555284 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499726 SCV002780143 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-27 criteria provided, single submitter clinical testing

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