Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001260493 | SCV001437510 | likely pathogenic | Cerebellar atrophy, developmental delay, and seizures | criteria provided, single submitter | clinical testing |