Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000551033 | SCV000725245 | likely benign | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001443891 | SCV001646878 | likely benign | Adams-Oliver syndrome 5 | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001443891 | SCV002554967 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270683 | SCV002554968 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456266 | SCV002737630 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-01-05 | 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. |