Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000497205 | SCV000588404 | likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2017-07-13 | criteria provided, single submitter | research | |
Ambry Genetics | RCV000623929 | SCV000740967 | likely pathogenic | Inborn genetic diseases | 2015-10-06 | criteria provided, single submitter | clinical testing |