ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1206C>G (p.Leu402=)

gnomAD frequency: 0.00003  dbSNP: rs764371721
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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 RCV001464037 SCV001667999 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489259 SCV002794596 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-09-28 criteria provided, single submitter clinical testing

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