Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488368 | SCV000575368 | uncertain significance | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000488368 | SCV000722799 | likely benign | not provided | 2020-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086427 | SCV001007126 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-07-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168989 | SCV003855216 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-02-18 | 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. |