Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193780 | SCV000247104 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2014-11-13 | criteria provided, single submitter | clinical testing |