Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre de Biologie Pathologie Génétique, |
RCV000417041 | SCV000485014 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | no assertion criteria provided | clinical testing |