ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.478C>T (p.Leu160=)

gnomAD frequency: 0.00001  dbSNP: rs746919701
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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 RCV001417741 SCV001619946 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014558 SCV005645558 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-03-24 criteria provided, single submitter clinical testing

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