Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001027707 | SCV001190288 | likely pathogenic | Intellectual developmental disorder with autism and macrocephaly | 2019-08-09 | criteria provided, single submitter | clinical testing |