The Shared Resource Centre "Genome" (Research Centre for Medical Genetics), SRC “Genome”
General information
The Shared Resource Centre "Genome", SRC “Genome”
Research Centre for Medical Genetics
1 Moskvorechye
Moscow
Russia - 115522
https://med-gen.ru/
Organization ID: 508841
Research Centre for Medical Genetics
1 Moskvorechye
Moscow
Russia - 115522
https://med-gen.ru/
Organization ID: 508841
Personnel
- Varvara Kadnikova, Variant scientist/curator
Phone: +79163811390
Email: vkadnikova@gmail.com - Oxana Ryzhkova, Lab Director
Phone: +79165556843
Email: ryzhkova@dnalab.ru - Olga Shatokhina, Variant scientist/curator
Phone: +79096873104
Email: olga.mironovich13@gmail.com - Viktoriia Zabnenkova, Variant scientist/curator
Phone: +79032009285
Email: v_zabnenkova@dnalab.ru
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 57
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADGRV1 | 2 | Nov 23, 2022 |
| FRMD5 | 3 | Nov 23, 2022 |
| LOC105371566 | 1 | Nov 23, 2022 |
| LOC112840921 | 1 | Nov 23, 2022 |
| LOC122152296 | 1 | Nov 23, 2022 |
| LOC126861365 | 1 | Nov 23, 2022 |
| MYO15A | 2 | Nov 23, 2022 |
| MYO7A | 8 | Nov 23, 2022 |
| OTOA | 2 | Nov 23, 2022 |
| OTOF | 6 | Nov 23, 2022 |
| POU3F4 | 2 | Nov 23, 2022 |
| PTPRQ | 2 | Nov 23, 2022 |
| RREB1 | 1 | Sep 8, 2023 |
| SLC26A4 | 7 | Nov 23, 2022 |
| SLC26A4-AS1 | 2 | Nov 23, 2022 |
| STRC | 7 | Nov 23, 2022 |
| TBCEL-TECTA | 3 | Nov 23, 2022 |
| TECTA | 3 | Nov 23, 2022 |
| TMC1 | 2 | Nov 23, 2022 |
| TMPRSS3 | 4 | Nov 23, 2022 |
| TRA2B | 1 | Sep 11, 2023 |
| USH2A | 8 | Nov 23, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 11 | 2 | Nov 23, 2022 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Nov 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 16 | 7 | Nov 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 2 | 6 | Nov 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 21 | 2 | Nov 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 22 | 2 | Nov 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 3 | 2 | Nov 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 4 | 7 | Nov 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 7 | 2 | Nov 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 8 | 4 | Nov 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 84A | 2 | Nov 23, 2022 |
| Autosomal recessive nonsyndromic hearing loss 9 | 6 | Nov 23, 2022 |
| RREB1-associated Noonan-like syndrome | 1 | Sep 8, 2023 |
| TRA2B-associated epileptic encephalopathy | 1 | Sep 11, 2023 |
| Usher syndrome type 2A | 8 | Nov 23, 2022 |
| Usher syndrome type 2C | 2 | Nov 23, 2022 |
| X-linked mixed hearing loss with perilymphatic gusher | 2 | Nov 23, 2022 |