Laboratory of Human Genetics (Institute of Biosciences - University of Sao Paulo), LGH
General information
Personnel
- Karina Lezirovitz, Staff
Phone: (11)989028800
Email: [email protected] - Karina Lezirovitz, Principal Investigator
Phone: 55-11-30617166
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 37
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| COCH | 1 | Aug 3, 2021 |
| FGFR2 | 1 | Aug 3, 2021 |
| KCNQ4 | 1 | Aug 3, 2021 |
| LOC100506071 | 1 | Aug 3, 2021 |
| MYO3A | 2 | Dec 3, 2020 |
| MYO7A | 1 | Aug 3, 2021 |
| NCOA3 | 1 | Aug 3, 2021 |
| OTOF | 21 | Aug 3, 2021 |
| P2RX2 | 1 | Aug 3, 2021 |
| SLC26A4 | 6 | Aug 24, 2021 |
| SLC26A4-AS1 | 1 | Aug 24, 2021 |
| TBCEL-TECTA | 1 | Aug 3, 2021 |
| TECTA | 1 | Aug 3, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 4 | 6 | Aug 24, 2021 |
| Bilateral sensorineural hearing impairment | 29 | Aug 3, 2021 |
| Nonsyndromic genetic hearing loss | 1 | Feb 5, 2019 |
| nonsyndromic sensorineural hearing loss | 1 | Dec 3, 2020 |