Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000677693 | SCV000803840 | pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2014-07-29 | criteria provided, single submitter | clinical testing |