Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001526526 | SCV001736948 | likely pathogenic | Proximal symphalangism 1A | criteria provided, single submitter | clinical testing |