Submissions for variant NM_004415.4(DSP):c.8394T>A (p.Thr2798=)

gnomAD frequency: 0.00002  dbSNP: rs775346694

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213173	SCV000270174	likely benign	not specified	2015-02-13	criteria provided, single submitter	clinical testing	p.Thr2798Thr in exon 24 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. The variant has been identified in 2/66698 E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org).
GeneDx	RCV001699240	SCV000535602	likely benign	not provided	2019-11-05	criteria provided, single submitter	clinical testing
Invitae	RCV000641845	SCV000763495	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2023-10-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001184037	SCV001349909	likely benign	Cardiomyopathy	2018-11-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000213173	SCV001360935	likely benign	not specified	2019-11-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433923	SCV002677916	likely benign	Cardiovascular phenotype	2019-07-17	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	RCV001184037	SCV003838440	likely benign	Cardiomyopathy	2022-02-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699240	SCV001926792	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699240	SCV001959592	likely benign	not provided		no assertion criteria provided	clinical testing