Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245273 | SCV000315308 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000475445 | SCV000560676 | benign | Aortic aneurysm, familial thoracic 7 | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697628 | SCV000722340 | likely benign | not provided | 2021-09-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338809 | SCV002636432 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-03-02 | 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. |