Submissions for variant NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=)

dbSNP: rs199538058

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228686	SCV000285594	benign	Long QT syndrome	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617424	SCV000738016	likely benign	Cardiovascular phenotype	2017-06-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV001610536	SCV001841013	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001610536	SCV004132350	benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	CACNA1C: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003955315	SCV004773475	likely benign	CACNA1C-related disorder	2024-01-03	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).
Clinical Genetics, Academic Medical Center	RCV001699255	SCV001921877	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699255	SCV001957509	benign	not specified		no assertion criteria provided	clinical testing