Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000850415 | SCV000992613 | likely pathogenic | Marfanoid habitus and intellectual disability | criteria provided, single submitter | research |