Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000870268 | SCV001011758 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180676 | SCV001345671 | likely benign | Cardiomyopathy | 2018-12-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363261 | SCV002659058 | likely benign | Cardiovascular phenotype | 2022-04-09 | 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, |
RCV004003059 | SCV004842259 | likely benign | Hypertrophic cardiomyopathy | 2023-07-10 | criteria provided, single submitter | clinical testing |