Submissions for variant NM_024422.6(DSC2):c.1520+8C>G

gnomAD frequency: 0.00024  dbSNP: rs372979057

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473886	SCV000561708	likely benign	Arrhythmogenic right ventricular dysplasia 11	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000608328	SCV000723377	likely benign	not specified	2017-10-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770538	SCV000901985	likely benign	Cardiomyopathy	2017-10-24	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000608328	SCV001921666	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702661	SCV001930167	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932756	SCV004760910	likely benign	DSC2-related disorder	2019-12-06	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).