ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.537C>T (p.Val179=)

dbSNP: rs368785828
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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 RCV001450771 SCV001654388 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501583 SCV002807229 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-09-08 criteria provided, single submitter clinical testing

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