Submissions for variant NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)

gnomAD frequency: 0.00096  dbSNP: rs56394008

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723669	SCV000111157	uncertain significance	not provided	2013-08-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000248726	SCV000305446	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079799	SCV000562918	benign	Long QT syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620526	SCV000738032	likely benign	Cardiovascular phenotype	2016-07-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000723669	SCV001473022	likely benign	not provided	2022-12-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723669	SCV001747640	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BP7, BS1
GeneDx	RCV000723669	SCV001848594	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000248726	SCV002570659	benign	not specified	2022-07-24	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000248726	SCV001922699	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000723669	SCV001956074	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723669	SCV001972608	likely benign	not provided		no assertion criteria provided	clinical testing