Ocular Genomics Institute (Massachusetts Eye and Ear), OGI
General information
Personnel
- Claudia Borodziuk, Genetic Counselor
Phone: 617-573-4227
Email: cborodziuk@meei.harvard.edu - 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
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 540
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 | 12 | Jan 19, 2024 |
| 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 | 21 | 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 |
| LOC101927157 | 6 | Apr 26, 2021 |
| LOC105371046 | 3 | Apr 26, 2021 |
| LOC111982869 | 1 | Apr 20, 2021 |
| LOC112806037 | 1 | Apr 26, 2021 |
| LOC122152296 | 1 | Apr 26, 2021 |
| LOC126805793 | 2 | Apr 26, 2021 |
| LOC126805794 | 2 | Apr 26, 2021 |
| LOC126806174 | 1 | Apr 26, 2021 |
| LOC126860392 | 1 | Apr 26, 2021 |
| LOC129390514 | 1 | Apr 26, 2021 |
| LOC129935214 | 2 | Apr 26, 2021 |
| LOC130065509 | 1 | Apr 26, 2021 |
| LOC130066823 | 2 | Jan 19, 2024 |
| LRAT | 1 | Apr 26, 2021 |
| MAK | 4 | Apr 26, 2021 |
| MERTK | 5 | Apr 26, 2021 |
| MT-ATP6 | 1 | Apr 26, 2021 |
| MT-ATP8 | 1 | Apr 26, 2021 |
| MT-CO1 | 1 | Apr 26, 2021 |
| MT-CO2 | 1 | Apr 26, 2021 |
| MT-CO3 | 1 | Apr 26, 2021 |
| MT-ND1 | 1 | Apr 26, 2021 |
| MT-ND2 | 1 | Apr 26, 2021 |
| MT-ND3 | 1 | Apr 26, 2021 |
| MT-ND4 | 1 | Apr 26, 2021 |
| MT-ND4L | 1 | Apr 26, 2021 |
| MT-ND5 | 1 | Apr 26, 2021 |
| MT-TA | 1 | Apr 26, 2021 |
| MT-TC | 1 | Apr 26, 2021 |
| MT-TD | 1 | Apr 26, 2021 |
| MT-TG | 1 | Apr 26, 2021 |
| MT-TH | 1 | Apr 26, 2021 |
| MT-TI | 1 | Apr 26, 2021 |
| MT-TK | 1 | Apr 26, 2021 |
| MT-TM | 1 | Apr 26, 2021 |
| MT-TN | 1 | Apr 26, 2021 |
| MT-TQ | 1 | Apr 26, 2021 |
| MT-TR | 1 | Apr 26, 2021 |
| MT-TS1 | 1 | Apr 26, 2021 |
| MT-TS2 | 1 | Apr 26, 2021 |
| MT-TW | 1 | Apr 26, 2021 |
| MT-TY | 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 |
| PRPF31-AS1 | 9 | 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 |
| ZNF454 | 1 | Apr 26, 2021 |