Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002539071 | SCV001011751 | likely benign | Adams-Oliver syndrome 5 | 2022-09-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307632 | SCV003999766 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-06-12 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003489950 | SCV004241215 | likely benign | not specified | 2023-12-17 | criteria provided, single submitter | clinical testing |