Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193581 | SCV000247121 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2014-06-03 | criteria provided, single submitter | clinical testing |