Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000459479 | SCV000532654 | likely benign | not provided | 2019-06-24 | 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 | RCV001426893 | SCV001629554 | likely benign | Adams-Oliver syndrome 5 | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001426893 | SCV002554891 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270439 | SCV002554892 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003485584 | SCV004239529 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-26 | criteria provided, single submitter | clinical testing |