Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000463122 | SCV000724170 | likely benign | not provided | 2020-10-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001851125 | SCV002244758 | likely benign | Shprintzen-Goldberg syndrome | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002323800 | SCV002631443 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-12-03 | 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. |