Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697532 | SCV000718338 | likely benign | not provided | 2021-04-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617327 | SCV000740095 | likely benign | Cardiovascular phenotype | 2016-12-15 | 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. |
Color Diagnostics, |
RCV001189669 | SCV001357005 | likely benign | Cardiomyopathy | 2019-04-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001423738 | SCV001626320 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-09-26 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002508 | SCV004842286 | likely benign | Hypertrophic cardiomyopathy | 2023-12-13 | criteria provided, single submitter | clinical testing |