Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442898 | SCV000533626 | likely benign | not specified | 2017-11-14 | 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 | RCV000472071 | SCV000559933 | likely benign | Adams-Oliver syndrome 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798813 | SCV002043530 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000472071 | SCV002554342 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270449 | SCV002554343 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736771 | SCV004563065 | likely benign | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing |