Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV000723353 | SCV000854752 | uncertain significance | Blepharophimosis - intellectual disability syndrome, SBBYS type | 2018-08-29 | no assertion criteria provided | clinical testing |