Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wessex Regional Genetics Laboratory, |
RCV000785827 | SCV000924400 | likely pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2014-01-01 | no assertion criteria provided | clinical testing |