Submissions for variant NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=)

gnomAD frequency: 0.00556  dbSNP: rs115216455

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079295	SCV000111165	benign	not specified	2013-07-25	criteria provided, single submitter	clinical testing
Invitae	RCV000468235	SCV000562875	benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620146	SCV000735693	benign	Cardiovascular phenotype	2015-11-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000718894	SCV000849758	benign	History of neurodevelopmental disorder	2015-11-17	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
GeneDx	RCV001675603	SCV001893277	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001675603	SCV004563991	likely benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing