Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000661965 | SCV000784296 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2018-03-05 | criteria provided, single submitter | clinical testing |