Submissions for variant NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)

gnomAD frequency: 0.00088  dbSNP: rs372702466

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177898	SCV000229855	uncertain significance	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085297	SCV000562886	benign	Long QT syndrome	2024-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314638	SCV000848230	likely benign	Cardiovascular phenotype	2016-11-11	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.
GeneDx	RCV000177898	SCV001859364	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000177898	SCV002048844	likely benign	not provided	2021-02-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001729429	SCV001978945	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000177898	SCV001979318	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955061	SCV004770568	likely benign	CACNA1C-related disorder	2020-01-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).