Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000585457 | SCV000514700 | likely benign | not provided | 2020-07-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000585457 | SCV000692816 | likely benign | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001170799 | SCV000739680 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-03-16 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170799 | SCV001333407 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001170799 | SCV001354444 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-03-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001170799 | SCV002165793 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323532 | SCV004028975 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |