Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001465739 | SCV001669731 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001465739 | SCV001735126 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001465739 | SCV002747192 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-04-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Prevention |
RCV003908348 | SCV004719675 | likely benign | TGFBR2-related condition | 2023-02-20 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV004003125 | SCV004839156 | likely benign | Loeys-Dietz syndrome 2 | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV004027894 | SCV005016444 | likely benign | Diabetic retinopathy | criteria provided, single submitter | research | Potent mutations in TGFBR2 gene encodes the transforming growth factor that have been associated with angiogenesis and diabetic retinopathy. More clinical studies are needed for stronger association. However, more evidence is required to confer the association of this particular variant rs774840447 with diabetic retinopathy. |