Submissions for variant NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=)

gnomAD frequency: 0.04512  dbSNP: rs72552065

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000152906	SCV000167502	benign	not specified	2011-07-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000152906	SCV000202333	benign	not specified	2013-12-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152906	SCV000305453	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243277	SCV000317535	benign	Cardiovascular phenotype	2015-07-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470155	SCV000562930	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811998	SCV002049844	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001811998	SCV005234727	benign	not provided		criteria provided, single submitter	not provided