Otorhinolaryngology Lab - LIM32 (University of Sao Paulo School of Medicine Clinics Hospital), LIM32
General information
Personnel
- Karina Lezirovitz, Principal Investigator
Phone: 55-11-30617166
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 30
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | May 23, 2018 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Aug 12, 2021 |
| Autosomal recessive nonsyndromic hearing loss 3 | 2 | Aug 12, 2021 |
| Autosomal recessive nonsyndromic hearing loss 4 | 3 | Aug 12, 2021 |
| Autosomal recessive nonsyndromic hearing loss 8 | 4 | Aug 12, 2021 |
| Autosomal recessive nonsyndromic hearing loss 9 | 4 | Aug 12, 2021 |
| Pendred syndrome | 3 | Aug 12, 2021 |
| Usher syndrome type 2A | 2 | Aug 12, 2021 |
| Waardenburg syndrome type 1 | 3 | Aug 12, 2021 |
| Waardenburg syndrome type 2A | 4 | Aug 12, 2021 |
| Waardenburg syndrome type 2E | 1 | Sep 2, 2021 |
| Waardenburg syndrome type 4C | 2 | Aug 12, 2021 |