Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000867562 | SCV001008804 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000867562 | SCV001354105 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002227094 | SCV002506069 | likely benign | not provided | 2022-02-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000867562 | SCV002651917 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-06-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |