Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233775 | SCV000291203 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722266 | SCV000534535 | likely benign | not provided | 2019-10-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338760 | SCV002642092 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-11 | 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, |
RCV002338760 | SCV003838215 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-09-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003387817 | SCV004100121 | benign | not specified | 2023-09-25 | criteria provided, single submitter | clinical testing |