Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV002289411 | SCV002580947 | uncertain significance | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2022-07-12 | criteria provided, single submitter | clinical testing |