Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001376166 | SCV001573217 | likely pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | no assertion criteria provided | clinical testing |