ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3845+12G>A

gnomAD frequency: 0.00001  dbSNP: rs1269104392
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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 RCV002101279 SCV002397018 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-05-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017128 SCV005645425 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-05-17 criteria provided, single submitter clinical testing

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