Submissions for variant NM_000719.7(CACNA1C):c.617+17G>A

gnomAD frequency: 0.27035  dbSNP: rs1544515

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079306	SCV000111176	benign	not specified	2013-07-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000079306	SCV000167475	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	RCV000079306	SCV000305457	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811362	SCV001473379	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554437	SCV001775682	benign	Timothy syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055109	SCV002437897	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001811362	SCV005234219	benign	not provided		criteria provided, single submitter	not provided