ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6049-10G>A

gnomAD frequency: 0.00006  dbSNP: rs199547941
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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 RCV000543746 SCV000632212 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-03-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506317 SCV002812521 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-11-05 criteria provided, single submitter clinical testing

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