Submissions for variant NM_024422.6(DSC2):c.2226A>G (p.Thr742=)

gnomAD frequency: 0.00014  dbSNP: rs142807209

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000556398	SCV000645005	likely benign	Arrhythmogenic right ventricular dysplasia 11	2024-12-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001722498	SCV000729581	likely benign	not provided	2019-05-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001176070	SCV001339905	likely benign	Cardiomyopathy	2019-09-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431639	SCV002726244	likely benign	Cardiovascular phenotype	2019-06-19	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003114668	SCV003801188	likely benign	not specified	2023-01-09	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003999352	SCV004816084	likely benign	Familial isolated arrhythmogenic right ventricular dysplasia	2023-11-28	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV003114668	SCV006065948	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing