Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wessex Regional Genetics Laboratory, |
RCV000785834 | SCV000924407 | likely pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2010-01-01 | criteria provided, single submitter | clinical testing |