Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521514 | SCV000619741 | uncertain significance | not provided | 2022-08-12 | criteria provided, single submitter | clinical testing | Has been observed in the control population in a study of affected individuals with left ventricular outflow tract defects (LVOT) (McBride et al., 2008); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18593716, 31289279) |
Invitae | RCV003105939 | SCV003783585 | benign | Adams-Oliver syndrome 5 | 2023-04-24 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150255 | SCV003837916 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-24 | criteria provided, single submitter | clinical testing |