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
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 32
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCD1 | 1 | Jun 9, 2022 |
BRCA1 | 1 | Jun 9, 2022 |
BRCA2 | 5 | Jun 9, 2022 |
FBN1 | 1 | Jun 9, 2022 |
HNF1A | 1 | Jun 9, 2022 |
KCNQ1 | 2 | Jun 9, 2022 |
LDLR | 2 | Jun 9, 2022 |
LMNA | 1 | Jun 9, 2022 |
LOC107982234 | 1 | Jun 9, 2022 |
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 |
NR5A1 | 1 | May 31, 2022 |
OTX2 | 1 | May 31, 2022 |
PKP2 | 1 | Jun 9, 2022 |
PMS2 | 1 | Jun 9, 2022 |
PROP1 | 1 | May 31, 2022 |
RET | 1 | Jun 9, 2022 |
RYR1 | 2 | Jun 9, 2022 |
SCN5A | 1 | Jun 9, 2022 |
SOS1 | 1 | May 31, 2022 |
TGFBR2 | 1 | Jun 9, 2022 |
TNNI3 | 1 | Jun 9, 2022 |
WT1 | 1 | Jun 9, 2022 |
Condition
Name | Submissions | Last Updated |
---|---|---|
46,XY partial gonadal dysgenesis | 4 | May 31, 2022 |
Adrenoleukodystrophy | 1 | Jun 9, 2022 |
Aortic aneurysm, familial thoracic 4 | 1 | Jun 9, 2022 |
Arrhythmogenic right ventricular dysplasia 9 | 1 | Jun 9, 2022 |
Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Jun 9, 2022 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 5 | Jun 9, 2022 |
Dilated cardiomyopathy 1A | 1 | Jun 9, 2022 |
Familial adenomatous polyposis 2 | 1 | Jun 9, 2022 |
Familial medullary thyroid carcinoma | 1 | Jun 9, 2022 |
Hypercholesterolemia, familial, 1 | 2 | Jun 9, 2022 |
Hypertrophic cardiomyopathy 1 | 1 | Jun 9, 2022 |
Hypertrophic cardiomyopathy 4 | 1 | Jun 9, 2022 |
Hypertrophic cardiomyopathy 7 | 1 | Jun 9, 2022 |
Loeys-Dietz syndrome 2 | 1 | Jun 9, 2022 |
Long QT syndrome 1 | 1 | Jun 9, 2022 |
Long QT syndrome 3 | 1 | Jun 9, 2022 |
Lynch syndrome 1 | 2 | Jun 9, 2022 |
Malignant hyperthermia, susceptibility to, 1 | 2 | Jun 9, 2022 |
Marfan syndrome | 1 | Jun 9, 2022 |
Maturity-onset diabetes of the young type 3 | 1 | Jun 9, 2022 |
Recurrent spontaneous abortion | 1 | Aug 23, 2021 |
Wilms tumor 1 | 1 | Jun 9, 2022 |