Laboratory of Genetics, AOUP (Azienda Ospedaliera Universitaria Pisana)
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 2
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Aug 22, 2017 |
| Chromosome 1q21.1 duplication syndrome | 1 | Feb 23, 2016 |