Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000865179 | SCV000535787 | likely benign | not provided | 2018-08-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001425539 | SCV001628169 | likely benign | Ehlers-Danlos syndrome, type 4 | 2022-10-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001805054 | SCV002052074 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-07-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001805054 | SCV004074352 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-06-19 | 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, |
RCV001425539 | SCV005427348 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-03-05 | criteria provided, single submitter | clinical testing |