Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001261962 | SCV001439316 | pathogenic | Nicolaides-Baraitser syndrome | 2020-09-02 | criteria provided, single submitter | clinical testing | |
Fondazione Telethon, |
RCV001029744 | SCV001169156 | likely pathogenic | Intellectual disability | no assertion criteria provided | clinical testing |