Laan Lab, Human Genetics Research Group (University of Tartu), LL_HGRG
General information
Laan Lab, Human Genetics Research Group, LL_HGRG
University of Tartu
Ravila 19
Tartu
Estonia
https://biomeditsiin.ut.ee/en/content/chair-human-genetics
Organization ID: 508159
University of Tartu
Ravila 19
Tartu
Estonia
https://biomeditsiin.ut.ee/en/content/chair-human-genetics
Organization ID: 508159
Personnel
- Anna-Grete Juchnewitsch, Staff
Phone: +372 737 5006
Email: anna-grete.juchnewitsch@ut.ee - Laura Kasak, Staff
Phone: +372 737 5006
Email: laura.kasak@ut.ee - Maris Laan, Principal Investigator
Phone: +372 737 5008
Email: maris.laan@ut.ee - Kristiina Lillepea, Staff
Phone: +372 737 5006
Email: kristiina.lillepea@ut.ee - Anu Valkna, Staff
Phone: +372 737 5006
Email: anu.valkna@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 115
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCD1 | 1 | Jun 9, 2022 |
| ACTRT1 | 1 | Jan 23, 2024 |
| AR | 3 | Jan 23, 2024 |
| ASZ1 | 1 | Jan 23, 2024 |
| ATRX | 1 | Jan 23, 2024 |
| BNC1 | 2 | Jan 23, 2024 |
| BRCA1 | 1 | Jun 9, 2022 |
| BRCA2 | 4 | Jun 9, 2022 |
| CHD7 | 1 | Jan 23, 2024 |
| CHEK1 | 1 | Jan 9, 2024 |
| DCAF12L1 | 1 | Jan 23, 2024 |
| DHX37 | 4 | Jan 23, 2024 |
| DMRT1 | 3 | Jan 23, 2024 |
| DYRK1A | 2 | Jan 23, 2024 |
| ESX1 | 1 | Jan 23, 2024 |
| FANCM | 2 | Jan 23, 2024 |
| FBN1 | 1 | Jun 9, 2022 |
| FGF8 | 1 | Jan 23, 2024 |
| GATA4 | 2 | Jan 23, 2024 |
| GLI2 | 1 | Jan 23, 2024 |
| GLUD2 | 1 | Jan 23, 2024 |
| GREB1L | 2 | Jan 23, 2024 |
| GREB1L-AS1 | 2 | Jan 23, 2024 |
| HESX1 | 1 | Jan 23, 2024 |
| HNF1A | 1 | Jun 9, 2022 |
| HUWE1 | 1 | Jan 23, 2024 |
| KCNQ1 | 2 | Jun 9, 2022 |
| KIF7 | 1 | Jan 9, 2024 |
| KLB | 1 | Jan 23, 2024 |
| KMT2D | 1 | Jan 23, 2024 |
| LDLR | 2 | Jun 9, 2022 |
| LEO1 | 1 | Jan 23, 2024 |
| LMNA | 1 | Jun 9, 2022 |
| LOC107982234 | 2 | Jan 23, 2024 |
| LOC130055588 | 1 | Dec 16, 2023 |
| LZTR1 | 4 | Dec 16, 2023 |
| M1AP | 1 | Jan 23, 2024 |
| MAP2K1 | 1 | Dec 16, 2023 |
| MCMDC2 | 2 | Jan 23, 2024 |
| MGRN1 | 1 | Apr 20, 2026 |
| MRAS | 1 | Dec 16, 2023 |
| MSH6 | 1 | Jun 9, 2022 |
| MUTYH | 1 | Jun 9, 2022 |
| MYBPC3 | 1 | Jun 9, 2022 |
| MYH11 | 1 | Jun 9, 2022 |
| MYH7 | 1 | Jun 9, 2022 |
| NDE1 | 1 | Jun 9, 2022 |
| NF1 | 1 | Dec 16, 2023 |
| NR5A1 | 7 | Jan 23, 2024 |
| NSMF | 1 | Jan 23, 2024 |
| OTX2 | 2 | Jan 23, 2024 |
| PKP2 | 1 | Jun 9, 2022 |
| PMS2 | 1 | Jun 9, 2022 |
| PROK2 | 3 | Jan 23, 2024 |
| PROKR2 | 3 | Jan 23, 2024 |
| PROP1 | 1 | May 31, 2022 |
| PTPN11 | 5 | Dec 16, 2023 |
| RBM5 | 1 | Jan 23, 2024 |
| RET | 1 | Jun 9, 2022 |
| ROS1 | 2 | Jan 23, 2024 |
| RYR1 | 2 | Jun 9, 2022 |
| SCN5A | 1 | Jun 9, 2022 |
| SEMA3A | 1 | Jan 23, 2024 |
| SMCHD1 | 1 | Jan 23, 2024 |
| SOS1 | 3 | Dec 16, 2023 |
| SOS2 | 1 | Dec 16, 2023 |
| SPRED1 | 1 | Dec 16, 2023 |
| SYCP2 | 1 | Jan 23, 2024 |
| TCF12 | 2 | Jan 23, 2024 |
| TEX14 | 1 | Jan 23, 2024 |
| TGFBR2 | 1 | Jun 9, 2022 |
| TGIF2LY | 1 | Jan 23, 2024 |
| TNNI3 | 1 | Jun 9, 2022 |
| TP63 | 1 | Jan 9, 2024 |
| TUBB3 | 1 | Jan 23, 2024 |
| WT1 | 3 | Jan 23, 2024 |