ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3969+12A>G

gnomAD frequency: 0.00014  dbSNP: rs200138472
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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 RCV002140383 SCV002458596 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-09-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505803 SCV002810031 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-14 criteria provided, single submitter clinical testing

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