Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001326853 | SCV001517904 | benign | Adams-Oliver syndrome 5 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587347 | SCV001822569 | uncertain significance | not provided | 2019-08-02 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Genome- |
RCV001326853 | SCV002553251 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271219 | SCV002553252 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |