Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fundacion Rioja Salud, |
RCV000508685 | SCV000301482 | pathogenic | Rubinstein-Taybi syndrome 2 | 2016-09-20 | criteria provided, single submitter | research | Leads to Rubinstein-Taybi syndrome |