Submissions for variant NM_004415.4(DSP):c.2121C>T (p.Asn707=)

gnomAD frequency: 0.00017  dbSNP: rs368590198

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000536855	SCV000641291	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000168643	SCV000724553	likely benign	not specified	2018-01-12	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.
Color Diagnostics, LLC DBA Color Health	RCV000777837	SCV000913836	likely benign	Cardiomyopathy	2018-10-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701538	SCV002062653	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	DSP: BP4, BP7
Ambry Genetics	RCV002415715	SCV002729914	likely benign	Cardiovascular phenotype	2019-10-16	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000777837	SCV003837773	likely benign	Cardiomyopathy	2021-11-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000168643	SCV004122332	likely benign	not specified	2023-10-23	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000168643	SCV001925418	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701538	SCV001929651	likely benign	not provided		no assertion criteria provided	clinical testing