Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Molecular Medicine, |
RCV001030030 | SCV001190546 | pathogenic | Blepharophimosis - intellectual disability syndrome, SBBYS type | 2019-05-10 | criteria provided, single submitter | clinical testing |