Ophthalmo-Genetics Lab (Instituto de Oftalmologia Conde de Valenciana), IOCV
General information
Ophthalmo-Genetics Lab, IOCV
Instituto de Oftalmologia Conde de Valenciana
Chimalpopoca 14
Mexico City
Mexico
Mexico - 06800
https://www.institutodeoftalmologia.org/
Organization ID: 508280
Instituto de Oftalmologia Conde de Valenciana
Chimalpopoca 14
Mexico City
Mexico
Mexico - 06800
https://www.institutodeoftalmologia.org/
Organization ID: 508280
Personnel
- Oscar Chacon-Camacho, Staff
Phone: +525568174863
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 168
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 120 | Jun 5, 2024 |
| ADAM9 | 1 | Dec 20, 2022 |
| BEST1 | 1 | Apr 22, 2022 |
| CERKL | 1 | Dec 13, 2022 |
| CHRDL1 | 1 | Oct 6, 2021 |
| CRX | 1 | Dec 13, 2022 |
| CYP2U1 | 1 | Apr 21, 2022 |
| LOC122152296 | 1 | Nov 14, 2022 |
| LOC126805793 | 11 | Jun 5, 2024 |
| LOC126805794 | 2 | Dec 19, 2022 |
| LOC130000261 | 1 | Dec 20, 2022 |
| LRIT3 | 2 | Dec 13, 2022 |
| PCARE | 1 | Dec 13, 2022 |
| PROM1 | 6 | Dec 14, 2022 |
| PRPH2 | 4 | Dec 13, 2022 |
| TEK | 9 | Jul 6, 2023 |
| UNC119 | 1 | Apr 22, 2022 |
| USH2A | 19 | Nov 16, 2022 |
| USH2A-AS1 | 2 | Nov 16, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive bestrophinopathy | 1 | Apr 22, 2022 |
| Cone-rod dystrophy | 1 | Dec 20, 2022 |
| Glaucoma 3, primary congenital, E | 9 | Jul 6, 2023 |
| Hereditary spastic paraplegia 56 | 1 | Apr 21, 2022 |
| Isolated congenital megalocornea | 1 | Oct 6, 2021 |
| Macular dystrophy | 1 | Apr 22, 2022 |
| Patterned macular dystrophy 1 | 2 | Apr 22, 2022 |
| Severe early-childhood-onset retinal dystrophy | 73 | Jun 5, 2024 |
| Stargardt disease | 33 | Dec 20, 2022 |
| Stargardt disease 3 | 27 | Jun 3, 2024 |
| Usher syndrome type 2 | 19 | Nov 16, 2022 |