ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2568G>A (p.Pro856=)

gnomAD frequency: 0.00004  dbSNP: rs372206587
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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 RCV001473255 SCV001677406 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495703 SCV002795649 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706200 SCV005216866 likely benign not provided criteria provided, single submitter not provided

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