Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470973 | SCV000560681 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001574189 | SCV001800960 | likely benign | not provided | 2020-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298532 | SCV003997330 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-04-17 | 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. |