ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4778-14C>T

gnomAD frequency: 0.00185  dbSNP: rs374784679
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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 RCV002154533 SCV002465655 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494486 SCV002795982 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716884 SCV005294981 benign not provided criteria provided, single submitter not provided

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