ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile)

gnomAD frequency: 0.00003  dbSNP: rs150821225
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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 RCV000819852 SCV000960534 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501135 SCV002791145 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-09-27 criteria provided, single submitter clinical testing

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