Submissions for variant NM_004415.4(DSP):c.6207C>T (p.Val2069=)

gnomAD frequency: 0.00022  dbSNP: rs147398792

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000461439	SCV000555762	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2023-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001704565	SCV000715233	likely benign	not provided	2019-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356722	SCV002655344	likely benign	Cardiovascular phenotype	2019-03-14	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.
PreventionGenetics, part of Exact Sciences	RCV003912822	SCV004728154	likely benign	DSP-related condition	2023-12-26	criteria provided, single submitter	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).
Clinical Genetics, Academic Medical Center	RCV000609269	SCV001919412	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001704565	SCV001953995	likely benign	not provided		no assertion criteria provided	clinical testing