Submissions for variant NM_024422.6(DSC2):c.870A>G (p.Pro290=)

gnomAD frequency: 0.00003  dbSNP: rs142653119

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000251476	SCV000320637	likely benign	Cardiovascular phenotype	2015-12-30	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.
GeneDx	RCV001701837	SCV000516087	likely benign	not provided	2021-01-11	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625300	SCV000744767	likely benign	Arrhythmogenic right ventricular dysplasia 11	2017-06-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001184484	SCV001350462	likely benign	Cardiomyopathy	2018-11-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625300	SCV001609282	likely benign	Arrhythmogenic right ventricular dysplasia 11	2025-01-12	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000438129	SCV001922141	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701837	SCV001929785	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701837	SCV001954529	likely benign	not provided		no assertion criteria provided	clinical testing