Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV000723280 | SCV000854669 | uncertain significance | Rubinstein-Taybi syndrome due to CREBBP mutations | 2018-05-03 | no assertion criteria provided | clinical testing |