DNA-diagnostics Laboratory (Research Centre for Medical Genetics), RCMG
General information
Personnel
- Elena Bliznetz, Principal Investigator
Phone: +79252445387
Email: [email protected] - Kristina Mikhalchuk, Principal Investigator
Phone: +79167703242
Email: [email protected] - Olga Shchagina, Lab Director
Phone: +79035812857
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 234
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BBS1 | 6 | Jul 2, 2024 |
| BBS10 | 2 | Jun 25, 2024 |
| BBS12 | 3 | Jun 25, 2024 |
| BBS2 | 3 | Jul 2, 2024 |
| BBS5 | 1 | Jun 25, 2024 |
| BBS7 | 7 | Jul 2, 2024 |
| BBS9 | 1 | Jun 25, 2024 |
| CEP290 | 3 | Jun 25, 2024 |
| IFT74 | 1 | Jun 25, 2024 |
| MKKS | 3 | Jul 2, 2024 |
| SERPING1 | 184 | Oct 4, 2024 |
| SH3TC2 | 3 | May 25, 2024 |
| SMN1 | 13 | Jun 11, 2024 |
| TTC8 | 3 | Jun 25, 2024 |
| WDPCP | 1 | Jul 2, 2024 |
| ZDHHC24 | 3 | Jul 2, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Angioedema | 9 | Aug 22, 2024 |
| Bardet-Biedl syndrome 1 | 6 | Jul 2, 2024 |
| Bardet-Biedl syndrome 10 | 2 | Jun 25, 2024 |
| Bardet-Biedl syndrome 12 | 3 | Jun 25, 2024 |
| Bardet-Biedl syndrome 14 | 3 | Jun 25, 2024 |
| Bardet-Biedl syndrome 15 | 1 | Jul 2, 2024 |
| Bardet-Biedl syndrome 2 | 3 | Jul 2, 2024 |
| Bardet-Biedl syndrome 22 | 1 | Jun 25, 2024 |
| Bardet-Biedl syndrome 5 | 1 | Jun 25, 2024 |
| Bardet-Biedl syndrome 6 | 3 | Jul 2, 2024 |
| Bardet-Biedl syndrome 7 | 7 | Jul 2, 2024 |
| Bardet-Biedl syndrome 8 | 3 | Jun 25, 2024 |
| Bardet-Biedl syndrome 9 | 1 | Jun 25, 2024 |
| Charcot-Marie-Tooth disease type 4C | 3 | May 25, 2024 |
| Hereditary angioedema type 1 | 175 | Oct 4, 2024 |
| Kugelberg-Welander disease | 5 | Jun 11, 2024 |
| Spinal muscular atrophy, type II | 5 | Jun 11, 2024 |
| Werdnig-Hoffmann disease | 3 | Jun 11, 2024 |