Submissions for variant NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)

gnomAD frequency: 0.00048  dbSNP: rs751423106

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000635070	SCV000756448	likely benign	Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	2024-01-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764016	SCV000894968	uncertain significance	Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV	2018-10-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003928065	SCV004751017	likely benign	CACNA1H-related condition	2023-02-24	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529534	SCV001743131	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529534	SCV001800081	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529534	SCV001967923	likely benign	not provided		no assertion criteria provided	clinical testing