ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2603+12C>T

gnomAD frequency: 0.10774  dbSNP: rs2745150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082069 SCV000114008 benign not specified 2013-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055218 SCV002403876 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715659 SCV005296430 benign not provided criteria provided, single submitter not provided

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