ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr)

gnomAD frequency: 0.00006  dbSNP: rs374297889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711100 SCV000841427 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001056277 SCV001220711 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477642 SCV002791137 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-04-22 criteria provided, single submitter clinical testing

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