Submissions for variant NM_000722.4(CACNA2D1):c.659-4_659-3del

dbSNP: rs370103843

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000621295	SCV000735150	likely benign	Cardiovascular phenotype	2015-08-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV001619809	SCV001846671	benign	not provided	2019-08-06	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700252	SCV001917960	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700252	SCV001931068	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003980194	SCV004791230	benign	CACNA2D1-related disorder	2019-06-26	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).