Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001180368 | SCV000319362 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-12-09 | 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. |
Ce |
RCV001090473 | SCV001246044 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TGFBR2: BP4, BP7 |
Color Diagnostics, |
RCV001180368 | SCV001345288 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001180368 | SCV001730275 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494788 | SCV002794889 | likely benign | Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6 | 2021-08-10 | criteria provided, single submitter | clinical testing |