ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1665G>A (p.Ala555=)

gnomAD frequency: 0.00004  dbSNP: rs753841406
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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 RCV001441263 SCV001644187 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488249 SCV002800548 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533739 SCV004755065 likely benign CACNA1H-related disorder 2019-06-23 criteria provided, single submitter 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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