ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5832C>T (p.His1944=)

gnomAD frequency: 0.00013  dbSNP: rs372529098
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635145 SCV000756523 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507074 SCV002798089 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392476 SCV004133667 benign not provided 2022-07-01 criteria provided, single submitter clinical testing CACNA1H: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003935777 SCV004760661 likely benign CACNA1H-related condition 2019-04-03 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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