ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5445+6C>T

gnomAD frequency: 0.00048  dbSNP: rs372544546
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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 RCV001467565 SCV001671591 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495689 SCV002804250 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540388 SCV004769756 likely benign CACNA1H-related disorder 2019-07-25 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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