Submissions for variant NM_001943.5(DSG2):c.2906C>T (p.Ala969Val)

gnomAD frequency: 0.00004  dbSNP: rs373598034

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202735	SCV000257909	uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	2015-07-10	criteria provided, single submitter	clinical testing
Invitae	RCV000642340	SCV000764009	likely benign	Arrhythmogenic right ventricular dysplasia 10	2024-01-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771781	SCV000904465	likely benign	Cardiomyopathy	2018-10-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000642340	SCV001287047	likely benign	Arrhythmogenic right ventricular dysplasia 10	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics	RCV002433786	SCV002750931	likely benign	Cardiovascular phenotype	2018-12-05	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.
Clinical Genetics, Academic Medical Center	RCV001699145	SCV001919800	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699145	SCV001928318	benign	not specified		no assertion criteria provided	clinical testing