Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wessex Regional Genetics Laboratory, |
RCV000785842 | SCV000924417 | pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2010-01-01 | no assertion criteria provided | clinical testing |