Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000770628 | SCV000902079 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000805083 | SCV000945026 | benign | Adams-Oliver syndrome 5 | 2022-09-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000805083 | SCV002553417 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271032 | SCV002553418 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003148859 | SCV003836943 | uncertain significance | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |