ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1479T>C (p.Ser493=)

gnomAD frequency: 0.00425  dbSNP: rs60415676
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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 RCV000530601 SCV000632082 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506310 SCV002811265 benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-09-06 criteria provided, single submitter clinical testing

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