Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001310246 | SCV001486749 | likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language | no assertion criteria provided | clinical testing |