Submissions for variant NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)

gnomAD frequency: 0.00346  dbSNP: rs34534613

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000079275	SCV000050756	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Eurofins Ntd Llc (ga)	RCV000173030	SCV000111145	likely benign	not specified	2014-07-16	criteria provided, single submitter	clinical testing
Invitae	RCV001082290	SCV000218722	benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000622244	SCV000735199	benign	Cardiovascular phenotype	2015-09-04	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics	RCV000306251	SCV001138622	benign	Timothy syndrome	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000079275	SCV001890790	benign	not provided	2018-11-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26498160)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000079275	SCV002049935	likely benign	not provided	2023-10-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498393	SCV002809049	likely benign	Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8	2022-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000079275	SCV003916801	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	CACNA1C: PP2, PP3, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003944997	SCV004774048	likely benign	CACNA1C-related disorder	2019-09-09	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).
Clinical Genetics, Academic Medical Center	RCV000173030	SCV001919553	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000173030	SCV001927830	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000173030	SCV001954118	benign	not specified		no assertion criteria provided	clinical testing