Submissions for variant NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)

gnomAD frequency: 0.00131  dbSNP: rs201258230

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723666	SCV000111158	uncertain significance	not provided	2016-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086024	SCV000285592	benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617472	SCV000735225	likely benign	Cardiovascular phenotype	2015-11-19	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	RCV000723666	SCV001159757	benign	not provided	2022-10-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000723666	SCV001939305	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723666	SCV002544991	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000250233	SCV003929073	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891545	SCV000305449	benign	CACNA1C-related disorder	2019-07-16	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000723666	SCV001740612	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000250233	SCV001919350	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000250233	SCV001955143	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723666	SCV001971913	likely benign	not provided		no assertion criteria provided	clinical testing