ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=)

gnomAD frequency: 0.00118  dbSNP: rs117964326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553669 SCV000632224 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506318 SCV002805253 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-09-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715261 SCV005296944 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541669 SCV004786584 benign CACNA1H-related disorder 2019-05-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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