Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000590943 | SCV000700161 | likely pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2016-09-14 | criteria provided, single submitter | clinical testing |