Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Daryl Scott Lab, |
RCV000856925 | SCV004102676 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Wessex Regional Genetics Laboratory, |
RCV000856925 | SCV000999480 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2019-11-05 | no assertion criteria provided | clinical testing |