Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Statistics and Bioinformatics, |
RCV000856783 | SCV000999340 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | criteria provided, single submitter | clinical testing |