Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226495 | SCV000290310 | benign | Adams-Oliver syndrome 5 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697590 | SCV000533331 | likely benign | not provided | 2021-06-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313957 | SCV000738399 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-08-21 | 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. |
Genome- |
RCV000226495 | SCV002553766 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270064 | SCV002553767 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001697590 | SCV004161991 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BS1 |