EVOGEN
General information
Personnel
- Nina Andreeva, Variant scientist/curator
Phone: +79160261945
Email: [email protected] - Daria Molodtsova-Zolotukhina, Variant scientist/curator
Phone: +79130501599
Email: [email protected] - Hanna Smirnova, Variant scientist/curator
Phone: +7999808205
Email: [email protected] - Gaukhar Zobkova, Coordinator
Phone: +79150176318
Email: [email protected]
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 |