ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3363+12C>G

gnomAD frequency: 0.00013  dbSNP: rs749123905
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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 RCV002191512 SCV002484466 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496121 SCV002801037 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-20 criteria provided, single submitter clinical testing

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