Submissions for variant NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=)

gnomAD frequency: 0.01676  dbSNP: rs56270948

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079301	SCV000111171	benign	not specified	2014-03-13	criteria provided, single submitter	clinical testing
Invitae	RCV000200821	SCV000252725	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251201	SCV000317405	benign	Cardiovascular phenotype	2015-06-26	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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000079301	SCV000740554	likely benign	not specified	2017-05-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001647053	SCV001156904	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001647053	SCV001857511	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079301	SCV001951547	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079301	SCV001978781	benign	not specified		no assertion criteria provided	clinical testing