Research Centre for Medical Genetics (Federal State Budgetary Scientific Institution)
General information
Research Centre for Medical Genetics
Federal State Budgetary Scientific Institution
ul. Moskvorechye, 1
Moscow
Russia - 115522
http://www.med-gen.ru/en/about/contacts/
Organization ID: 507291
Federal State Budgetary Scientific Institution
ul. Moskvorechye, 1
Moscow
Russia - 115522
http://www.med-gen.ru/en/about/contacts/
Organization ID: 507291
Personnel
- Tatiana Beskorovainaya, Principal Investigator
Phone: +79267181568
Email: t-kovalevskaya@yandex.ru - Alexander Polyakov, Lab Director
Phone: +79267919152
Email: apol@dnalab.ru
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| FKBP14 | 1 | May 13, 2021 |
| FKBP14-AS1 | 1 | May 13, 2021 |
| MECP2 | 1 | Nov 4, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | 1 | May 13, 2021 |
| Rett syndrome | 1 | Nov 4, 2019 |