EVOGEN
General information
Personnel
- Nina Andreeva, Variant scientist/curator
Phone: +79160261945
Email: andreeva@evogenlab.ru - Daria Molodtsova-Zolotukhina, Variant scientist/curator
Phone: +79130501599
Email: alaratinos@gmail.com - Hanna Smirnova, Variant scientist/curator
Phone: +7999808205
Email: hannah.dud94@gmail.com - Gaukhar Zobkova, Coordinator
Phone: +79150176318
Email: zobkova@evogenlab.ru
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 3
Gene
Gene | Submissions | Last Updated |
---|---|---|
BCOR | 1 | Oct 24, 2023 |
LOC126863239 | 1 | Oct 24, 2023 |
SLC2A1 | 1 | Oct 24, 2023 |
ZMYM2 | 1 | Oct 24, 2023 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Encephalopathy due to GLUT1 deficiency | 1 | Oct 24, 2023 |
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 1 | Oct 24, 2023 |
Oculofaciocardiodental syndrome | 1 | Oct 24, 2023 |