ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=)

gnomAD frequency: 0.00011  dbSNP: rs41292281
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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 RCV001523075 SCV001732731 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488339 SCV002803512 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533947 SCV004741012 likely benign CACNA1H-related disorder 2019-09-20 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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