Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198940 | SCV000250592 | likely benign | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311057 | SCV000320324 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-11-03 | 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. |
Invitae | RCV003761818 | SCV001003373 | benign | FG syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing |