Laboratory of Genetic Epidemiology (Research Centre for Medical Genetics), RCMG
General information
Laboratory of Genetic Epidemiology, RCMG
Research Centre for Medical Genetics
Moskvorechie St., 1
Moscow
Russia - 115478
http://med-gen.ru/
Organization ID: 505460
Research Centre for Medical Genetics
Moskvorechie St., 1
Moscow
Russia - 115478
http://med-gen.ru/
Organization ID: 505460
Personnel
- Sofya Ionova, Staff
Phone: +79253221373
Email: sofya.aydarovna.g@gmail.com - Andrey Marakhonov, Principal Investigator
Phone: +79036194837
Email: marakhonov@generesearch.ru
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 54
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ELP4 | 1 | Mar 29, 2017 |
| LOC105371566 | 1 | Jul 11, 2022 |
| LOC121740638 | 3 | May 7, 2015 |
| MYO15A | 2 | Jul 11, 2022 |
| PAX6 | 49 | Nov 30, 2020 |
| TFAP2A | 3 | May 7, 2015 |
| TFAP2A-AS2 | 3 | May 7, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Aniridia 1 | 49 | Nov 30, 2020 |
| Autosomal recessive nonsyndromic hearing loss 3 | 2 | Jul 11, 2022 |
| Branchiooculofacial syndrome | 3 | May 7, 2015 |