Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV000503664 | SCV000590939 | likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2017-06-13 | no assertion criteria provided | clinical testing |