Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824972 | SCV000966147 | pathogenic | Shashi-Pena syndrome | 2018-09-18 | criteria provided, single submitter | clinical testing |