Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wessex Regional Genetics Laboratory, |
RCV000010039 | SCV000999436 | likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2019-11-05 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000010039 | SCV004013320 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2023-06-21 | criteria provided, single submitter | clinical testing | PS2, PS4, PM2, PP2, PP3 |
OMIM | RCV000010039 | SCV000030260 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2002-07-01 | no assertion criteria provided | literature only |