Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003595990 | SCV000559595 | likely benign | FG syndrome | 2023-10-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318554 | SCV000850506 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-02-22 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV003437216 | SCV004165337 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | MED12: BP4, BP7, BS2 |