Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471078 | SCV000560664 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721537 | SCV000718225 | likely benign | not provided | 2021-06-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001170113 | SCV000739259 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-10-14 | 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, |
RCV001170113 | SCV001332652 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000610192 | SCV001338308 | benign | not specified | 2020-02-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001721537 | SCV004563412 | likely benign | not provided | 2023-09-25 | criteria provided, single submitter | clinical testing |