Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315071 | SCV000739382 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-03-31 | 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. |
Invitae | RCV000655294 | SCV000777224 | likely benign | Adams-Oliver syndrome 5 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000842214 | SCV000984214 | likely benign | not provided | 2020-01-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000655294 | SCV002554991 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270874 | SCV002554992 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000842214 | SCV004162049 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BP7 |