Submissions for variant NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=)

gnomAD frequency: 0.00525  dbSNP: rs188224114

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205361	SCV000260081	benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246733	SCV000318515	benign	Cardiovascular phenotype	2016-06-14	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Eurofins Ntd Llc (ga)	RCV000374014	SCV000337384	benign	not specified	2015-11-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000717686	SCV000848542	benign	History of neurodevelopmental disorder	2016-06-14	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001711167	SCV001473633	benign	not provided	2023-03-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001711167	SCV001945176	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915034	SCV004734841	benign	CACNA1C-related disorder	2020-01-13	criteria provided, single submitter	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).