Submissions for variant NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=)

gnomAD frequency: 0.04216  dbSNP: rs41276710

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079292	SCV000111162	benign	not specified	2013-07-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000245788	SCV000318646	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000456879	SCV000562928	benign	Long QT syndrome	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001711224	SCV001945193	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711224	SCV005234714	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000079292	SCV001917876	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079292	SCV001959567	benign	not specified		no assertion criteria provided	clinical testing