Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465080 | SCV000559921 | likely benign | Adams-Oliver syndrome 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001731704 | SCV000715376 | likely benign | not provided | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000465080 | SCV002553853 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270537 | SCV002553854 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367597 | SCV002665886 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-09-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |