Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001358681 | SCV001554482 | likely pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | criteria provided, single submitter | clinical testing |