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: [email protected] - Laura Kasak, Staff
Phone: +372 737 5006
Email: [email protected] - Maris Laan, Principal Investigator
Phone: +372 737 5008
Email: [email protected] - Kristiina Lillepea, Staff
Phone: +372 737 5006
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 114
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 |
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 |
LOC101927521 | 2 | Jan 23, 2024 |
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 |
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 |