Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819117 | SCV000959760 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453873 | SCV002736099 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-10-28 | 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, |
RCV002487821 | SCV002784741 | uncertain significance | Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 2021-10-29 | criteria provided, single submitter | clinical testing |