Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV003151845 | SCV003840250 | likely pathogenic | Developmental delay with variable neurologic and brain abnormalities | 2020-09-23 | criteria provided, single submitter | research | |
Equipe Genetique des Anomalies du Developpement, |
RCV001261973 | SCV001439330 | likely pathogenic | Motor delay; Dysmorphic features; Developmental delay; brain structure abnormalities | 2020-09-22 | no assertion criteria provided | clinical testing |