Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000654820 | SCV000776720 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000654820 | SCV001354753 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-02-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193762 | SCV001362856 | likely benign | not specified | 2019-10-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672921 | SCV001890471 | likely benign | not provided | 2021-06-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000654820 | SCV002653893 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-02-29 | 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. |