Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194224 | SCV000248014 | benign | not specified | 2019-04-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705081 | SCV000513581 | benign | not provided | 2020-06-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003765227 | SCV000559594 | benign | FG syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314832 | SCV000739141 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-05-13 | 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. |