Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001804247 | SCV002052190 | likely benign | Cardiomyopathy | 2021-03-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002074178 | SCV002365722 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2022-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422865 | SCV002729064 | likely benign | Cardiovascular phenotype | 2018-10-24 | 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, |
RCV004009078 | SCV004821757 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-09-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004754791 | SCV005346415 | likely benign | DSG2-related disorder | 2024-05-17 | no assertion criteria provided | 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). |