Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476532 | SCV000548957 | likely benign | Adams-Oliver syndrome 5 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798838 | SCV002043526 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001805069 | SCV002050519 | uncertain significance | not provided | 2021-12-21 | criteria provided, single submitter | clinical testing | Reported in one individual with bicuspid aortic valve (Dargis et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID#409074; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26708639) |
Genome- |
RCV000476532 | SCV002554005 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270507 | SCV002554006 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |