ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.912C>G (p.His304Gln)

gnomAD frequency: 0.00002  dbSNP: rs377665479
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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 RCV000635027 SCV000756405 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-05-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483797 SCV002779936 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-24 criteria provided, single submitter clinical testing

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