Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000023485 | SCV000044776 | pathogenic | Blepharophimosis - intellectual disability syndrome, SBBYS type | 2011-11-11 | no assertion criteria provided | literature only | |
Lee Lab |
RCV000128651 | SCV000172291 | not provided | not provided | no assertion provided | not provided |