ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3078A>G (p.Arg1026=)

gnomAD frequency: 0.00001  dbSNP: rs575176246
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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 RCV001879480 SCV002144458 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478204 SCV002793059 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-25 criteria provided, single submitter clinical testing

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