Department of Biosciences (University of Milan)
Personnel
- Giuliana Giannuzzi, Principal Investigator
Phone: NA
Email: giuliana.giannuzzi@gmail.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 20
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATP6AP1 | 1 | May 10, 2022 |
| C16orf92 | 1 | May 10, 2022 |
| CCNQ | 1 | May 10, 2022 |
| CFB | 1 | May 10, 2022 |
| CHD1L | 1 | May 10, 2022 |
| EPHX1 | 1 | May 10, 2022 |
| KIF11 | 2 | May 10, 2022 |
| LIMS2 | 1 | May 10, 2022 |
| LOC126863334 | 1 | May 10, 2022 |
| MAGEC1 | 1 | May 10, 2022 |
| MUC16 | 1 | May 10, 2022 |
| PKP3 | 1 | May 10, 2022 |
| POLR3C | 1 | May 10, 2022 |
| SLC34A1 | 1 | May 10, 2022 |
| TLE2 | 2 | May 10, 2022 |
| TMEM63A | 1 | May 10, 2022 |
| USP3 | 1 | May 10, 2022 |
| ZC3H3 | 2 | May 10, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Lymphopenia | 19 | May 10, 2022 |
| Neutropenia | 19 | May 10, 2022 |
| See cases | 1 | Apr 30, 2022 |