Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865568 | SCV001006558 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-08-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409035 | SCV002710943 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-10-27 | 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. |
Fulgent Genetics, |
RCV002495250 | SCV002802306 | likely benign | Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 2021-08-24 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV002409035 | SCV004239507 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-12-28 | criteria provided, single submitter | clinical testing |