Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000627100 | SCV000747904 | likely pathogenic | Autistic behavior; Moderate global developmental delay | 2015-05-13 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001260801 | SCV001437894 | pathogenic | Intellectual disability | 2020-09-10 | criteria provided, single submitter | clinical testing |