Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fundacion Rioja Salud, |
RCV000490773 | SCV000297724 | pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2016-07-01 | criteria provided, single submitter | research | |
Wessex Regional Genetics Laboratory, |
RCV000490773 | SCV001189995 | pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2019-11-05 | no assertion criteria provided | clinical testing |