Submissions for variant NM_024422.6(DSC2):c.2104T>C (p.Leu702=)

gnomAD frequency: 0.00001  dbSNP: rs753742489

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000620206	SCV000737923	likely benign	Cardiovascular phenotype	2017-03-06	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625297	SCV000744758	likely benign	Arrhythmogenic right ventricular dysplasia 11	2017-06-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001181569	SCV001346746	likely benign	Cardiomyopathy	2018-11-30	criteria provided, single submitter	clinical testing
Invitae	RCV000625297	SCV001693694	likely benign	Arrhythmogenic right ventricular dysplasia 11	2023-10-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001675942	SCV001895842	benign	not provided	2016-07-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001701403	SCV002103985	likely benign	not specified	2022-02-26	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701403	SCV001922396	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001675942	SCV001927991	likely benign	not provided		no assertion criteria provided	clinical testing