Research Centre for Medical Genetics (Research Centre for Medical Genetics), RCMG
General information
Research Centre for Medical Genetics, RCMG
Research Centre for Medical Genetics
Moskvorechie 1
Moscow
Russia - 115478
http://www.med-gen.ru/
Organization ID: 505651
Research Centre for Medical Genetics
Moskvorechie 1
Moscow
Russia - 115478
http://www.med-gen.ru/
Organization ID: 505651
Personnel
- Nikolay Zernov, Principal Investigator
Phone: +79150825227
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal Recessive Hypotrichosis with Woolly Hair | 1 | Jul 8, 2016 |
| Developmental and epileptic encephalopathy, 11 | 1 | Feb 28, 2022 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 1 | Dec 24, 2015 |
| Kabuki syndrome 2 | 1 | Feb 28, 2022 |
| Severe myoclonic epilepsy in infancy | 1 | Aug 20, 2021 |