Submissions for variant NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)

gnomAD frequency: 0.00025  dbSNP: rs141633456

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079281	SCV000111151	uncertain significance	not provided	2012-09-26	criteria provided, single submitter	clinical testing
Invitae	RCV001084502	SCV000259926	likely benign	Long QT syndrome	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621900	SCV000737406	likely benign	Cardiovascular phenotype	2016-12-26	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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV001256728	SCV001433134	benign	not specified	2019-11-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000079281	SCV001885799	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000079281	SCV004129714	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BS2