Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV000677431 | SCV000803738 | likely pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2018-06-21 | no assertion criteria provided | clinical testing |