Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001182818 | SCV001348413 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811686 | SCV001470838 | likely benign | not provided | 2019-10-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001182818 | SCV002724095 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-09-30 | 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. |
Labcorp Genetics |
RCV002559811 | SCV003294317 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-11-17 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV002559811 | SCV004833051 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-08-14 | criteria provided, single submitter | clinical testing |