Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000010036 | SCV000030257 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 1995-07-27 | no assertion criteria provided | literature only | |
Wessex Regional Genetics Laboratory, |
RCV000010036 | SCV000999398 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2019-11-05 | no assertion criteria provided | clinical testing |