Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000889398 | SCV001033076 | likely benign | Non-ketotic hyperglycinemia | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572559 | SCV001797221 | uncertain significance | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV000889398 | SCV001452739 | likely benign | Non-ketotic hyperglycinemia | 2019-11-11 | no assertion criteria provided | clinical testing |