Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001027664 | SCV001190226 | likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2019-06-04 | criteria provided, single submitter | clinical testing |