ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2603+20C>A

gnomAD frequency: 0.00226  dbSNP: rs57600685
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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 RCV002136735 SCV002403638 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508022 SCV002807231 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-09-08 criteria provided, single submitter clinical testing

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