Submissions for variant NM_001943.5(DSG2):c.1299T>C (p.Asp433=)

gnomAD frequency: 0.00011  dbSNP: rs367548984

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001707821	SCV000726331	likely benign	not provided	2019-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV000865814	SCV001006836	likely benign	Arrhythmogenic right ventricular dysplasia 10	2023-11-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001190487	SCV001357988	likely benign	Cardiomyopathy	2020-02-04	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000604804	SCV001433084	likely benign	not specified	2019-10-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001190487	SCV002043137	likely benign	Cardiomyopathy	2020-03-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002385928	SCV002692434	likely benign	Cardiovascular phenotype	2020-12-04	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.