Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000536789 | SCV000641981 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000772098 | SCV000905133 | likely benign | Cardiomyopathy | 2023-09-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448706 | SCV002611877 | likely benign | Cardiovascular phenotype | 2020-08-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
All of Us Research Program, |
RCV003999237 | SCV004819973 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-12-01 | criteria provided, single submitter | clinical testing | This is a synonymous variant that does not change the amino acid sequence of the DSG2 protein. However, computational splicing tools suggest that this variant may impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 8/280796 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |