Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Medical Genetics Ghent, |
RCV000149461 | SCV000196105 | pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2011-08-05 | no assertion criteria provided | clinical testing | |
Wessex Regional Genetics Laboratory, |
RCV000149461 | SCV000924447 | pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2015-01-01 | no assertion criteria provided | clinical testing |