ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4929+18G>A

gnomAD frequency: 0.00873  dbSNP: rs59548273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561188 SCV001783735 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070388 SCV002336718 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001561188 SCV005216886 likely benign not provided criteria provided, single submitter not provided

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