ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.312C>T (p.His104=)

gnomAD frequency: 0.00001  dbSNP: rs370735613
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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 RCV001452447 SCV001656112 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2019-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506528 SCV002805329 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-13 criteria provided, single submitter clinical testing

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