Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234548 | SCV000290261 | likely benign | Adams-Oliver syndrome 5 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313949 | SCV000739386 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-01-31 | 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- |
RCV000234548 | SCV002554540 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270040 | SCV002554541 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003422153 | SCV004162037 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BP7 |