Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000606494 | SCV000726918 | likely benign | not specified | 2018-01-29 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002528614 | SCV003285484 | likely benign | Adams-Oliver syndrome 5 | 2023-10-12 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000606494 | SCV004029562 | likely benign | not specified | 2023-07-29 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003485616 | SCV004239541 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-09-15 | criteria provided, single submitter | clinical testing |