ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5808C>T (p.Pro1936=)

gnomAD frequency: 0.00063  dbSNP: rs374421144
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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 RCV000955089 SCV001101771 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479102 SCV002801582 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533680 SCV004725633 likely benign CACNA1H-related disorder 2019-06-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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