Medical Genetics (University of Parma), GenMed
General information
Medical Genetics, GenMed
University of Parma
Via Gramsci, 14
Parma
Italy - 43126
http://www.unipr.it/
Organization ID: 505625
University of Parma
Via Gramsci, 14
Parma
Italy - 43126
http://www.unipr.it/
Organization ID: 505625
Personnel
- Antonio Percesepe, Principal Investigator
Phone: +390521704462
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 275
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3M syndrome 1 | 1 | Dec 17, 2015 |
| Autosomal dominant Alport syndrome | 11 | Mar 11, 2020 |
| Autosomal recessive Alport syndrome | 13 | Mar 11, 2020 |
| Benign familial hematuria | 11 | Mar 11, 2020 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Jul 14, 2022 |
| Neurofibromatosis, type 1 | 237 | Aug 24, 2022 |
| Palmoplantar keratoderma-deafness syndrome | 1 | Jul 5, 2016 |
| X-linked Alport syndrome | 11 | Mar 11, 2020 |