Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000241864 | SCV000319487 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-03-26 | 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. |
Invitae | RCV000241864 | SCV001020135 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000241864 | SCV001339906 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-06-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920012 | SCV004735346 | likely benign | TGFBR2-related condition | 2023-06-13 | 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). |