Institute of Medical Molecular Genetics (University of Zurich), Medmolgen
General information
Institute of Medical Molecular Genetics, Medmolgen
University of Zurich
Wagistrasse 12
CH-8952 Schlieren
Schwerzenbach
Zurich
Switzerland - 8603
https://www.medmolgen.uzh.ch/en
Organization ID: 300471
University of Zurich
Wagistrasse 12
CH-8952 Schlieren
Schwerzenbach
Zurich
Switzerland - 8603
https://www.medmolgen.uzh.ch/en
Organization ID: 300471
Personnel
- Wolfgang Berger, Lab Director
Phone: +4144 556 33 50
Email: berger@medmolgen.uzh.ch - David Grubich Atac, Staff
Phone: +41 44 556 33 95
Email: grubichatac@medmolgen.uzh.ch - Elena Lang, Staff
Phone: +4144 556 33 95
Email: elena.lang@uzh.ch - Jordi Maggi, Staff
Phone: +4144 556 33 80
Email: maggi@medmolgen.uzh.ch
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 189
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 84 | Mar 19, 2021 |
| ADAR | 1 | Mar 17, 2020 |
| ATOH7 | 2 | Aug 23, 2019 |
| BEST1 | 11 | Mar 19, 2021 |
| C1QTNF5 | 3 | Mar 17, 2020 |
| CDHR1 | 2 | Mar 19, 2021 |
| CDKL5 | 4 | Mar 19, 2021 |
| CEP290 | 2 | Mar 19, 2021 |
| CNGA3 | 2 | Mar 19, 2021 |
| CNGB1 | 2 | Mar 19, 2021 |
| CNGB3 | 3 | Mar 19, 2021 |
| CRB1 | 7 | Mar 19, 2021 |
| CRX | 1 | Mar 19, 2021 |
| CYP1B1 | 6 | Mar 9, 2020 |
| CYP4V2 | 2 | Mar 19, 2021 |
| EFEMP1 | 1 | Mar 19, 2021 |
| ELOVL4 | 1 | Mar 19, 2021 |
| FAM111A | 1 | Mar 17, 2020 |
| FOXC1 | 4 | Mar 9, 2020 |
| FTH1 | 1 | Mar 19, 2021 |
| GIGYF2 | 1 | Mar 19, 2021 |
| GUCA1A | 1 | Mar 19, 2021 |
| GUCA1ANB-GUCA1A | 1 | Mar 19, 2021 |
| GUCY2D | 3 | Mar 19, 2021 |
| KCNJ13 | 1 | Mar 19, 2021 |
| KCNV2 | 2 | Mar 19, 2021 |
| LOC126805793 | 6 | Mar 19, 2021 |
| LOC126805874 | 1 | Mar 17, 2020 |
| LOC130064709 | 1 | Aug 23, 2019 |
| MFRP | 3 | Mar 17, 2020 |
| MFSD8 | 3 | Mar 19, 2021 |
| OPA1 | 3 | Mar 19, 2021 |
| OPA3 | 1 | Aug 23, 2019 |
| PCARE | 1 | Mar 19, 2021 |
| PDE6C | 1 | Mar 19, 2021 |
| PROM1 | 3 | Mar 19, 2021 |
| PRPH2 | 7 | Mar 19, 2021 |
| PRSS56 | 1 | Mar 17, 2020 |
| RGR | 1 | Mar 19, 2021 |
| RP1 | 2 | Mar 19, 2021 |
| RP1L1 | 2 | Mar 19, 2021 |
| RP2 | 1 | Mar 19, 2021 |
| RPGR | 12 | Mar 19, 2021 |
| RS1 | 6 | Mar 19, 2021 |
| SNRNP200 | 1 | Mar 19, 2021 |