Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556881 | SCV000659475 | likely benign | Adams-Oliver syndrome 5 | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591306 | SCV001822684 | likely benign | not provided | 2020-11-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000556881 | SCV002553897 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270705 | SCV002553898 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358628 | SCV002661075 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-03-03 | 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, |
RCV003330797 | SCV004038206 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |