Molecular Diagnosis Center for Deafness
Personnel
- Shasha Huang441298347, Medical Director
Phone: 8610-66935464
Email: hssch315@163.com - Yongyi Yuan, Genetic Counselor
Phone: 8610-66935464
Email: yyymzh@163.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 112
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| FOXC1 | 1 | Sep 7, 2021 |
| GJB2 | 1 | Dec 30, 2019 |
| LOC105371566 | 14 | Nov 3, 2021 |
| LOC127814297 | 4 | Mar 20, 2020 |
| LOC130060418 | 2 | Oct 25, 2021 |
| MYO15A | 105 | Nov 3, 2021 |
| POU4F3 | 4 | Mar 20, 2020 |
| SMAD4 | 1 | Feb 2, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 15 | 4 | Mar 20, 2020 |
| Autosomal recessive nonsyndromic hearing loss 3 | 105 | Nov 3, 2021 |
| Axenfeld-Rieger syndrome type 3 | 1 | Sep 7, 2021 |
| Myhre syndrome | 1 | Feb 2, 2022 |
| Noonan syndrome 1 | 1 | Dec 30, 2019 |