Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824974 | SCV000966150 | pathogenic | Coffin-Siris syndrome 1 | 2018-05-15 | criteria provided, single submitter | clinical testing |