Laboratory of Evolutionary Genomics (Vavilov Institute of General Genetics RAS)
General information
Personnel
- Maria Protasova
Phone: +7(499)135-53-63
Email: irakuzn@yahoo.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCB7 | 1 | Apr 5, 2015 |
| AMER1 | 1 | Apr 5, 2015 |
| ATP7A | 1 | Apr 5, 2015 |
| CCDC22 | 1 | Feb 16, 2022 |
| CSMD1 | 1 | Feb 25, 2022 |
| DNAH2 | 1 | Feb 16, 2022 |
| FAAH2 | 1 | Feb 16, 2022 |
| GRM1 | 1 | Apr 3, 2023 |
| LL0XNC01-250H12.3 | 1 | Feb 16, 2022 |
| LOC105377785 | 1 | Feb 25, 2022 |
| LRCH2 | 1 | Feb 25, 2022 |
| NHSL2 | 1 | Apr 5, 2015 |
| PHKA1 | 1 | Apr 5, 2015 |
| RAB40A | 1 | Feb 16, 2022 |
| RTL9 | 1 | Apr 5, 2015 |
| ZNF674 | 1 | Feb 16, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cerebellar ataxia | 3 | Apr 3, 2023 |
| Demyelinating peripheral neuropathy | 1 | Feb 25, 2022 |
| Spinocerebellar ataxia, X-linked | 6 | Apr 5, 2015 |
| not provided | 5 | Feb 16, 2022 |