Ocular Genomics Institute (Massachusetts Eye and Ear), OGI
General information
Personnel
- Emily Place, Genetic Counselor
Phone: 617-573-6902
Email: emily_place@meei.harvard.edu - Riccardo Sangermano, Staff
Phone: 617-573-4227
Email: Riccardo_Sangermano@MEEI.HARVARD.EDU - Erin Zampaglione, Staff
Phone: 617-573-4227
Email: Erin_Zampaglione@MEEI.HARVARD.EDU
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 528
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 31 | Apr 26, 2021 |
| ADAM9 | 2 | Apr 26, 2021 |
| ADGRV1 | 10 | Apr 26, 2021 |
| AHI1 | 4 | Apr 26, 2021 |
| AIPL1 | 3 | Apr 26, 2021 |
| ALMS1 | 4 | Apr 26, 2021 |
| BBS1 | 4 | Apr 26, 2021 |
| BBS2 | 2 | Apr 26, 2021 |
| BEST1 | 5 | Apr 26, 2021 |
| C10orf105 | 1 | Apr 20, 2021 |
| CC2D2A | 2 | Apr 26, 2021 |
| CDH23 | 12 | Apr 26, 2021 |
| CDHR1 | 1 | Apr 26, 2021 |
| CDKL5 | 2 | Apr 26, 2021 |
| CEP290 | 11 | Apr 26, 2021 |
| CEP78 | 2 | Apr 26, 2021 |
| CERKL | 9 | Apr 26, 2021 |
| CFAP410 | 1 | Apr 26, 2021 |
| CHM | 1 | Apr 26, 2021 |
| CLN3 | 3 | Apr 26, 2021 |
| CLRN1 | 2 | Apr 26, 2021 |
| CLRN1-AS1 | 1 | Apr 26, 2021 |
| CNGA1 | 6 | Apr 26, 2021 |
| CNGB1 | 12 | Apr 26, 2021 |
| CNGB3 | 2 | Sep 18, 2019 |
| COL2A1 | 1 | Apr 26, 2021 |
| CRB1 | 21 | Apr 26, 2021 |
| CYP4V2 | 2 | Apr 26, 2021 |
| DHDDS | 3 | Apr 26, 2021 |
| ERCC6 | 2 | Apr 26, 2021 |
| EYS | 43 | Apr 26, 2021 |
| FAM161A | 3 | Apr 26, 2021 |
| FLVCR1 | 2 | Apr 26, 2021 |
| GPHN | 19 | Apr 26, 2021 |
| GRM6 | 1 | Apr 26, 2021 |
| GUCY2D | 4 | Apr 26, 2021 |
| IFT122 | 2 | Apr 26, 2021 |
| IFT140 | 3 | Apr 26, 2021 |
| IFT172 | 3 | Apr 26, 2021 |
| IFT88 | 2 | Apr 26, 2021 |
| IMPDH1 | 1 | Apr 26, 2021 |
| IMPG2 | 3 | Apr 26, 2021 |
| INPP5E | 19 | Apr 26, 2021 |
| IQCB1 | 4 | Apr 26, 2021 |
| JAG1 | 1 | Apr 26, 2021 |
| KCNV2 | 2 | Apr 26, 2021 |
| KIZ | 1 | Apr 26, 2021 |
| KLHL7 | 1 | Apr 26, 2021 |
| LCA5 | 2 | Apr 26, 2021 |
| LOC100130798 | 1 | Apr 26, 2021 |
| LOC101927157 | 6 | Apr 26, 2021 |
| LOC105371046 | 3 | Apr 26, 2021 |
| LOC111982869 | 1 | Apr 20, 2021 |
| LOC112806037 | 1 | Apr 26, 2021 |
| LRAT | 1 | Apr 26, 2021 |
| MAK | 4 | Apr 26, 2021 |
| MERTK | 5 | Apr 26, 2021 |
| MT-ATP6 | 1 | Apr 26, 2021 |
| MYO7A | 2 | Apr 26, 2021 |
| NMNAT1 | 1 | Apr 26, 2021 |
| NPHP4 | 2 | Apr 20, 2021 |
| NR2E3 | 5 | Apr 26, 2021 |
| NRL | 2 | Apr 26, 2021 |
| PCARE | 3 | Apr 26, 2021 |
| PDE6A | 9 | Apr 26, 2021 |
| PDE6B | 12 | Apr 26, 2021 |
| PDE6B-AS1 | 2 | Apr 26, 2021 |
| PHF3 | 10 | Apr 26, 2021 |
| PNPLA6 | 2 | Apr 26, 2021 |
| PRDM16 | 1 | Apr 26, 2021 |
| PROM1 | 2 | Apr 26, 2021 |
| PRPF31 | 14 | Apr 26, 2021 |
| PRPF6 | 1 | Apr 26, 2021 |
| PRPF8 | 5 | Apr 26, 2021 |
| PRPH2 | 1 | Apr 26, 2021 |
| RBP3 | 2 | Apr 26, 2021 |
| RDH12 | 21 | Apr 26, 2021 |
| REEP6 | 1 | Apr 26, 2021 |
| RHO | 19 | Apr 26, 2021 |
| RIC3 | 2 | Apr 26, 2021 |
| RP1 | 11 | Apr 26, 2021 |
| RP2 | 3 | Apr 26, 2021 |
| RPE65 | 10 | Apr 26, 2021 |
| RPGR | 9 | Apr 26, 2021 |
| RPGRIP1 | 2 | Apr 26, 2021 |
| RPGRIP1L | 2 | Apr 20, 2021 |
| RS1 | 2 | Apr 26, 2021 |
| SNRNP200 | 3 | Apr 26, 2021 |
| SPATA7 | 1 | Apr 26, 2021 |
| TOPORS | 2 | Apr 26, 2021 |
| TUB | 2 | Apr 26, 2021 |
| TULP1 | 9 | Apr 26, 2021 |
| USH2A | 95 | Apr 26, 2021 |
| USH2A-AS1 | 12 | Apr 26, 2021 |
| USH2A-AS2 | 3 | Apr 26, 2021 |
| VPS13B | 4 | Apr 26, 2021 |
| WDR19 | 3 | Apr 26, 2021 |
| ZDHHC24 | 2 | Apr 26, 2021 |
| ZFYVE26 | 6 | Apr 26, 2021 |