Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145763 | SCV000192890 | uncertain significance | Rubinstein-Taybi syndrome due to CREBBP mutations | 2013-04-15 | criteria provided, single submitter | clinical testing |