Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527350 | SCV000637286 | likely benign | Shprintzen-Goldberg syndrome | 2023-08-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002292560 | SCV002585015 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | SKI: PM2:Supporting, BP4, BP7 |
Ambry Genetics | RCV002413502 | SCV002715080 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-23 | 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. |