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 |