Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001027671 | SCV001190233 | pathogenic | Hyperphosphatasia with intellectual disability syndrome 3 | 2019-08-23 | criteria provided, single submitter | clinical testing |