Submissions for variant NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=)

gnomAD frequency: 0.08744  dbSNP: rs215976

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079283	SCV000111153	benign	not specified	2013-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000079283	SCV000167483	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.
Ambry Genetics	RCV000247755	SCV000317516	benign	Cardiovascular phenotype	2015-06-23	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	RCV000860432	SCV001000486	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004707910	SCV005234679	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000079283	SCV001920115	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079283	SCV001957190	benign	not specified		no assertion criteria provided	clinical testing