ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu)

gnomAD frequency: 0.00001  dbSNP: rs921830082
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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 RCV000806506 SCV000946510 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495101 SCV002786359 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-15 criteria provided, single submitter clinical testing

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