Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000870073 | SCV001011545 | likely benign | Lethal congenital glycogen storage disease of heart | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525473 | SCV001735598 | likely benign | Cardiomyopathy | 2018-03-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001553271 | SCV001774115 | likely benign | not provided | 2020-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002454001 | SCV002614764 | likely benign | Cardiovascular phenotype | 2018-08-25 | 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, |
RCV004003057 | SCV004842309 | likely benign | Hypertrophic cardiomyopathy | 2023-12-18 | criteria provided, single submitter | clinical testing |