NEI Ophthalmic Genomics Laboratory (National Institutes of Health)
General information
Personnel
- Robert Hufnagel, Lab Director
Phone: 301-503-1305
Email: robert.hufnagel@nih.gov - Xinjing Wang
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 208
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 6 | Mar 16, 2011 |
| ADGRV1 | 7 | Mar 16, 2011 |
| AIPL1 | 2 | Mar 16, 2011 |
| ASTN2 | 1 | Mar 16, 2011 |
| BBS1 | 1 | Mar 16, 2011 |
| BBS12 | 2 | Mar 16, 2011 |
| BBS2 | 1 | Mar 16, 2011 |
| BBS5 | 1 | Mar 16, 2011 |
| BEST1 | 2 | Mar 16, 2011 |
| C10orf105 | 1 | Mar 16, 2011 |
| CA4 | 2 | Mar 16, 2011 |
| CACNA1F | 2 | Mar 16, 2011 |
| CACNA2D4 | 2 | Mar 16, 2011 |
| CDH23 | 7 | Mar 16, 2011 |
| CDH3 | 1 | Mar 16, 2011 |
| CEP290 | 3 | Mar 16, 2011 |
| CLRN1 | 1 | Mar 16, 2011 |
| CLRN1-AS1 | 1 | Mar 16, 2011 |
| CNGB1 | 5 | Mar 16, 2011 |
| CNGB3 | 2 | Mar 16, 2011 |
| CRB1 | 1 | Mar 16, 2011 |
| CYP4V2 | 1 | Mar 16, 2011 |
| FSCN2 | 1 | Mar 16, 2011 |
| GRM6 | 1 | Mar 16, 2011 |
| GUCA1B | 1 | Mar 16, 2011 |
| GUCY2D | 1 | Mar 16, 2011 |
| HMCN1 | 6 | Mar 16, 2011 |
| HTRA1 | 1 | Mar 16, 2011 |
| KCNV2 | 1 | Mar 16, 2011 |
| LOC126805793 | 1 | Mar 16, 2011 |
| LOC126860392 | 1 | Mar 16, 2011 |
| LRAT | 1 | Mar 16, 2011 |
| LRP5 | 1 | Mar 16, 2011 |
| MERTK | 3 | Mar 16, 2011 |
| MKKS | 1 | Mar 16, 2011 |
| PCDH15 | 2 | Mar 16, 2011 |
| PDE6A | 2 | Mar 16, 2011 |
| PDE6B | 1 | Mar 16, 2011 |
| PROM1 | 2 | Mar 16, 2011 |
| PRPH2 | 113 | May 7, 2020 |
| PSAP | 1 | Mar 16, 2011 |
| RGR | 1 | Mar 16, 2011 |
| RP1 | 2 | Mar 16, 2011 |
| RPGR | 2 | Mar 16, 2011 |
| RPGRIP1 | 1 | Mar 16, 2011 |
| TLR4 | 2 | Mar 16, 2011 |
| TRIM32 | 1 | Mar 16, 2011 |
| TTC8 | 1 | Mar 16, 2011 |
| UBA2 | 1 | Sep 11, 2020 |
| USH2A | 10 | Mar 16, 2011 |
| ZNF454 | 1 | Mar 16, 2011 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Choroideremia | 1 | May 7, 2020 |
| Chromosome 19q13.11 deletion syndrome, distal | 1 | Sep 11, 2020 |
| Cone-rod dystrophy | 9 | May 7, 2020 |
| Doyne honeycomb retinal dystrophy | 1 | May 7, 2020 |
| Patterned dystrophy of the retinal pigment epithelium | 28 | May 7, 2020 |
| Retinitis pigmentosa | 19 | May 7, 2020 |
| Stargardt disease | 45 | May 7, 2020 |
| Vitelliform macular dystrophy 2 | 9 | May 7, 2020 |
| not provided | 95 | Mar 16, 2011 |