Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Inherited Metabolic Diseases, |
RCV001353062 | SCV001548187 | likely pathogenic | Congenital brain dysgenesis due to glutamine synthetase deficiency | 2021-03-24 | criteria provided, single submitter | clinical testing |