Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000363353 | SCV000442850 | uncertain significance | Marfan syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000266417 | SCV000442851 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000323947 | SCV000442852 | uncertain significance | Loeys-Dietz syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001171831 | SCV000715903 | likely benign | not provided | 2019-06-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000266417 | SCV001007059 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001171831 | SCV001334702 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | TGFBR2: BP4, BP7 |
Color Diagnostics, |
RCV000266417 | SCV001353190 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-01-07 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000266417 | SCV002042884 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-11-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000266417 | SCV002668185 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-30 | 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. |