Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Shenzhen Institute of Pediatrics, |
RCV000258851 | SCV000328448 | likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2016-05-13 | criteria provided, single submitter | clinical testing |