Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995791 | SCV001150139 | pathogenic | Blepharophimosis - intellectual disability syndrome, SBBYS type | 2019-10-22 | criteria provided, single submitter | clinical testing |