Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV002508366 | SCV002817452 | likely pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Rubinstein-Taybi syndrome | 2023-01-04 | criteria provided, single submitter | clinical testing |