Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311214 | SCV000320552 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-12-02 | 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. |
Invitae | RCV001080530 | SCV000770583 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000658970 | SCV000780773 | likely benign | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000658970 | SCV001812214 | likely benign | not provided | 2020-10-14 | criteria provided, single submitter | clinical testing |