Human Genetics - Radboudumc (Radboudumc)
General information
Human Genetics - Radboudumc
Radboudumc
Geert grooteplein zuid 10
Nijmegen
Netherlands - 6525 GA
https://www.radboudumc.nl/Research/Organisationofresearch/Departments/HumanGenetics/Pages/default.aspx
Organization ID: 505925
Radboudumc
Geert grooteplein zuid 10
Nijmegen
Netherlands - 6525 GA
https://www.radboudumc.nl/Research/Organisationofresearch/Departments/HumanGenetics/Pages/default.aspx
Organization ID: 505925
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 189
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 12 | Sep 14, 2016 |
| ABHD12 | 2 | Sep 14, 2016 |
| ACBD5 | 2 | Sep 14, 2016 |
| ADGRV1 | 1 | Sep 14, 2016 |
| AHI1 | 2 | Sep 14, 2016 |
| BBS1 | 3 | Sep 14, 2016 |
| BBS12 | 1 | Sep 14, 2016 |
| BBS5 | 2 | Sep 14, 2016 |
| BEST1 | 2 | Sep 14, 2016 |
| C10orf105 | 1 | Sep 14, 2016 |
| C1QTNF5 | 1 | Sep 14, 2016 |
| CABP4 | 1 | Sep 14, 2016 |
| CACNA1F | 1 | Sep 14, 2016 |
| CDH23 | 3 | Sep 14, 2016 |
| CDH3 | 1 | Sep 14, 2016 |
| CEP290 | 3 | Sep 14, 2016 |
| CERKL | 1 | Sep 14, 2016 |
| CLN3 | 3 | Sep 14, 2016 |
| CLRN1 | 2 | Sep 14, 2016 |
| CNGA3 | 4 | Sep 14, 2016 |
| CNGB1 | 1 | Sep 14, 2016 |
| CNGB3 | 5 | Sep 14, 2016 |
| CRB1 | 3 | Sep 14, 2016 |
| CRX | 1 | Sep 14, 2016 |
| CRYBA1 | 1 | Sep 14, 2016 |
| CYGB | 2 | Sep 14, 2016 |
| DYNC2H1 | 9 | Mar 30, 2021 |
| EYA1 | 1 | Sep 14, 2016 |
| EYS | 17 | Sep 14, 2016 |
| FAM161A | 2 | Sep 14, 2016 |
| GPHN | 2 | Sep 14, 2016 |
| GUCY2D | 4 | Sep 14, 2016 |
| IMPDH1 | 1 | Sep 14, 2016 |
| IMPG2 | 1 | Sep 14, 2016 |
| IQCB1 | 4 | Sep 14, 2016 |
| MFRP | 1 | Sep 14, 2016 |
| NR2E3 | 3 | Sep 14, 2016 |
| NRL | 1 | Sep 14, 2016 |
| OPA1 | 1 | Sep 14, 2016 |
| PANK2 | 3 | Sep 14, 2016 |
| PAX6 | 1 | Sep 14, 2016 |
| PDE6B | 9 | Sep 14, 2016 |
| PDE6B-AS1 | 2 | Sep 14, 2016 |
| PHF3 | 1 | Sep 14, 2016 |
| PRCD | 2 | Sep 14, 2016 |
| PRDM16 | 1 | Sep 14, 2016 |
| PROM1 | 4 | Sep 14, 2016 |
| PRPF31 | 2 | Sep 14, 2016 |
| PRPH2 | 1 | Sep 14, 2016 |
| RDH12 | 2 | Sep 14, 2016 |
| RHO | 1 | Sep 14, 2016 |
| RP1 | 4 | Sep 14, 2016 |
| RP2 | 2 | Sep 14, 2016 |
| RPE65 | 6 | Sep 14, 2016 |
| RPGR | 8 | Sep 14, 2016 |
| RPGRIP1 | 2 | Sep 14, 2016 |
| SLC24A1 | 2 | Sep 14, 2016 |
| SPATA7 | 2 | Sep 14, 2016 |
| TOPORS | 1 | Sep 14, 2016 |
| TTLL5 | 1 | Sep 14, 2016 |
| USH2A | 29 | Sep 14, 2016 |
| USH2A-AS1 | 3 | Sep 14, 2016 |
| USH2A-AS2 | 1 | Sep 14, 2016 |
| VSX2 | 2 | Sep 14, 2016 |
| WDR35 | 3 | Mar 30, 2021 |
| ZDHHC24 | 3 | Sep 14, 2016 |
| ZFYVE26 | 1 | Sep 14, 2016 |