Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002380131 | SCV002668475 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-02 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003324030 | SCV004029545 | likely benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003748409 | SCV004550254 | benign | Adams-Oliver syndrome 5 | 2024-01-18 | criteria provided, single submitter | clinical testing |