ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys)

gnomAD frequency: 0.00002  dbSNP: rs776740325
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797258 SCV000936807 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477817 SCV002803869 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693272 SCV005194080 uncertain significance not provided criteria provided, single submitter not provided

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