Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000677698 | SCV000803846 | likely pathogenic | Spondylocarpotarsal synostosis syndrome | 2016-01-13 | criteria provided, single submitter | clinical testing |