Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000954004 | SCV001100606 | likely benign | Non-ketotic hyperglycinemia | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001558339 | SCV001780264 | uncertain significance | not provided | 2022-08-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28719003, 26740555) |
Natera, |
RCV000954004 | SCV001458631 | uncertain significance | Non-ketotic hyperglycinemia | 2020-01-24 | no assertion criteria provided | clinical testing |