Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231578 | SCV000290249 | likely benign | Adams-Oliver syndrome 5 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000770640 | SCV000739379 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770640 | SCV000902092 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-11-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572372 | SCV001796999 | likely benign | not provided | 2020-09-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000231578 | SCV002554956 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270036 | SCV002554957 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987470 | SCV004803617 | benign | not specified | 2024-01-22 | criteria provided, single submitter | clinical testing |