Department of Otolaryngology, Head and Neck Surgery (Beijing Friendship Hospital, Capital Medical University)
General information
Personnel
- Fan Yuan, Medical Director
Phone: 18801346323
Email: yuanfferic@163.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 31
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AIFM1 | 2 | Mar 12, 2024 |
| CEP135 | 1 | Mar 12, 2024 |
| DIAPH1 | 1 | Mar 12, 2024 |
| H1-4 | 1 | Mar 12, 2024 |
| LOC112840921 | 1 | Mar 12, 2024 |
| MT-ND6 | 1 | Mar 12, 2024 |
| MT-TL1 | 1 | Mar 12, 2024 |
| OPA1 | 2 | Mar 12, 2024 |
| OTOF | 15 | Mar 12, 2024 |
| PLP1 | 1 | Mar 12, 2024 |
| RAB33A | 2 | Mar 12, 2024 |
| RAB9B | 1 | Mar 12, 2024 |
| SLC17A8 | 1 | Mar 12, 2024 |
| SLC52A2 | 2 | Mar 12, 2024 |
| TBC1D24 | 2 | Mar 12, 2024 |
| TUBB4A | 1 | Mar 12, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Auditory neuropathy spectrum disorder | 31 | Mar 12, 2024 |