Molecular Medicine (University of Pavia), MM_UNIPV
General information
Personnel
- Edoardo Errichiello, Principal Investigator
Phone: +39 0382987733
Email: [email protected] - Mauro Lecca, Staff
Phone: +39 0382987733
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 44
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BCOR | 2 | Aug 1, 2023 |
| COL4A1 | 2 | Aug 1, 2023 |
| CPAMD8 | 2 | Sep 28, 2023 |
| CRYAA | 1 | Jul 28, 2023 |
| CRYBA1 | 1 | Jul 28, 2023 |
| CRYBA4 | 2 | Jul 28, 2023 |
| CRYBB1 | 2 | Jul 28, 2023 |
| CRYGA | 1 | Aug 28, 2023 |
| CRYGD | 2 | Jul 28, 2023 |
| CWC27 | 1 | Aug 1, 2023 |
| ESAM | 4 | Jan 5, 2023 |
| ESAM-AS1 | 1 | Jan 5, 2023 |
| FOXE3 | 1 | Aug 1, 2023 |
| GJA8 | 2 | Jul 28, 2023 |
| IFIH1 | 1 | Aug 1, 2023 |
| JAM3 | 1 | Aug 1, 2023 |
| KIF1A | 1 | Aug 1, 2023 |
| LINC01389 | 1 | Aug 1, 2023 |
| LOC100507443 | 2 | Jul 28, 2023 |
| MAF | 2 | Jul 28, 2023 |
| NDP | 1 | Jul 28, 2023 |
| NDP-AS1 | 1 | Jul 28, 2023 |
| NHS | 3 | Aug 1, 2023 |
| OCRL | 1 | Jul 28, 2023 |
| PAX6 | 4 | Aug 1, 2023 |
| PDE6B | 1 | Jul 28, 2023 |
| RAB3GAP1 | 1 | Aug 1, 2023 |
| SPTAN1 | 1 | Aug 1, 2023 |
| TBX6 | 1 | Mar 5, 2020 |
| TDP2 | 1 | Feb 21, 2020 |
| TDRD7 | 2 | Jan 30, 2023 |
| WDR91 | 1 | Feb 20, 2023 |