Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824868 | SCV000965771 | likely pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency | 2015-01-01 | criteria provided, single submitter | clinical testing |