Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV000760257 | SCV000890093 | likely pathogenic | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2016-11-09 | criteria provided, single submitter | clinical testing |