Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002311206 | SCV000320535 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-03-22 | 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. |
| Gene |
RCV000423634 | SCV000531912 | likely benign | not specified | 2017-07-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Invitae | RCV000471243 | SCV000559896 | benign | Adams-Oliver syndrome 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV000471243 | SCV002553777 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV002270188 | SCV002553778 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000423634 | SCV004029184 | likely benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |