Santos-Cortez Lab (University of Colorado School of Medicine)
General information
Personnel
- Regie Santos-Cortez
Phone: (303) 724-0289
Email: regie.santos-cortez@ucdenver.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 45
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 15 | Apr 25, 2019 |
| A2ML1-AS1 | 2 | Apr 25, 2019 |
| CDHR3 | 8 | Aug 27, 2021 |
| CHD7 | 1 | Jan 17, 2019 |
| COL4A3 | 1 | Jan 17, 2019 |
| EYA4 | 1 | Jan 17, 2019 |
| GSDME | 1 | Jan 17, 2019 |
| LOC105371566 | 1 | Jan 17, 2019 |
| MFF-DT | 1 | Jan 17, 2019 |
| MYH14 | 1 | Jan 17, 2019 |
| MYO15A | 1 | Jan 17, 2019 |
| OTOA | 1 | Jan 17, 2019 |
| PLG | 5 | Aug 6, 2019 |
| SLPI | 1 | Jul 14, 2023 |
| SPINK5 | 9 | Apr 20, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant Alport syndrome | 1 | Jan 17, 2019 |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 | Jan 17, 2019 |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 | Jan 17, 2019 |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 | Jan 17, 2019 |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 | Jan 17, 2019 |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 | Jan 17, 2019 |
| CHARGE association | 1 | Jan 17, 2019 |
| Otitis media, susceptibility to | 21 | Jul 14, 2023 |
| Susceptibility to nonsyndromic otitis media | 17 | Aug 27, 2021 |