Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001526556 | SCV001736981 | likely pathogenic | Global developmental delay | criteria provided, single submitter | clinical testing | ||
Ce |
RCV003437160 | SCV004154711 | pathogenic | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | ADNP: PVS1:Strong, PM2, PM6, PS4:Moderate |
Laboratory of Molecular Genetics, |
RCV000414834 | SCV000493083 | likely pathogenic | Autism, severe; intellectual deficiency | no assertion criteria provided | clinical testing |