ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.801C>T (p.Val267=)

gnomAD frequency: 0.00008  dbSNP: rs372726042
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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 RCV000525393 SCV000632242 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497099 SCV002809132 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-01-12 criteria provided, single submitter clinical testing

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