Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535564 | SCV000641042 | likely benign | Aortic aneurysm, familial thoracic 4 | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177342 | SCV001341537 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001644647 | SCV001859759 | likely benign | not provided | 2020-03-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV001177342 | SCV002637180 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-04-22 | 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. |