Submissions for variant NM_000719.7(CACNA1C):c.522G>A (p.Ala174=)

gnomAD frequency: 0.16949  dbSNP: rs1544514

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079297	SCV000111167	benign	not specified	2013-07-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000079297	SCV000167474	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.
PreventionGenetics, part of Exact Sciences	RCV000079297	SCV000305452	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248885	SCV000317419	benign	Cardiovascular phenotype	2015-03-09	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	RCV000860167	SCV001000118	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554436	SCV001775681	benign	Timothy syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004706481	SCV005234218	benign	not provided		criteria provided, single submitter	not provided