Department of Clinical Genetics (Medical University of Lodz)
General information
Department of Clinical Genetics
Medical University of Lodz
Pomorska street 251
Łódź
Poland - 92-213
https://umed.pl/zaklad-genetyki-klinicznej-metryka/
Organization ID: 509494
Medical University of Lodz
Pomorska street 251
Łódź
Poland - 92-213
https://umed.pl/zaklad-genetyki-klinicznej-metryka/
Organization ID: 509494
Personnel
- Tomasz Ploszaj, Variant scientist/curator
Phone: +48695991491
Email: tomasz.ploszaj@umed.lodz.pl - Sebastian Skoczylas, Variant scientist/curator
Phone: +48503654044
Email: sebastian.skoczylas@umed.lodz.pl
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 32
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCD1 | 1 | Dec 6, 2024 |
| BBS9 | 1 | Nov 27, 2024 |
| BRCA1 | 1 | Dec 9, 2024 |
| COL4A4 | 4 | Jan 16, 2025 |
| COL4A5 | 2 | Feb 11, 2025 |
| GALNT12 | 1 | Dec 9, 2024 |
| GCK | 5 | Feb 10, 2025 |
| HNF1A | 1 | Dec 11, 2024 |
| KCNQ2 | 1 | Mar 27, 2024 |
| KIF1A | 1 | Mar 26, 2024 |
| LDLR | 1 | Dec 9, 2024 |
| LOC102724058 | 1 | Mar 27, 2024 |
| LOC107303340 | 1 | Dec 3, 2024 |
| LOC126806583 | 1 | Mar 26, 2024 |
| LOC126862571 | 1 | Dec 9, 2024 |
| LZTR1 | 1 | Dec 3, 2024 |
| MT-TL2 | 1 | Mar 26, 2024 |
| MUTYH | 1 | Dec 11, 2024 |
| PIGV | 1 | Mar 21, 2024 |
| SCN1A | 2 | Mar 27, 2024 |
| SCN3A | 1 | Mar 27, 2024 |
| SCN8A | 1 | Mar 27, 2024 |
| SYNE1 | 1 | Mar 27, 2024 |
| SYNGAP1 | 2 | Mar 22, 2024 |
| SYNGAP1-AS1 | 1 | Mar 20, 2024 |
| TBC1D24 | 1 | Mar 22, 2024 |
| VHL | 1 | Dec 3, 2024 |