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NEI Ophthalmic Genomics Laboratory (National Institutes of Health)

General information

NEI Ophthalmic Genomics Laboratory
National Institutes of Health
10 Center Drive
Room 10N109
Bethesda
Maryland
United States - 20892
https://www.nei.nih.gov/research/research-labs-and-branches/ophthalmic-genomics-laboratory
Organization ID: 500072

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 212

Gene

GeneSubmissionsLast Updated
ABCA46Mar 16, 2011
ADGRV17Mar 16, 2011
AIPL12Mar 16, 2011
ASTN21Mar 16, 2011
BBS11Mar 16, 2011
BBS122Mar 16, 2011
BBS21Mar 16, 2011
BBS51Mar 16, 2011
BEST12Mar 16, 2011
C10orf1051Mar 16, 2011
CA42Mar 16, 2011
CACNA1F2Mar 16, 2011
CACNA2D42Mar 16, 2011
CDH237Mar 16, 2011
CDH31Mar 16, 2011
CEP2903Mar 16, 2011
CLRN11Mar 16, 2011
CLRN1-AS11Mar 16, 2011
CNGB15Mar 16, 2011
CNGB32Mar 16, 2011
CRB11Mar 16, 2011
CYP4V21Mar 16, 2011
FSCN21Mar 16, 2011
GRM61Mar 16, 2011
GUCA1B1Mar 16, 2011
GUCY2D1Mar 16, 2011
HMCN16Mar 16, 2011
HTRA11Mar 16, 2011
KCNV21Mar 16, 2011
LOC1268057931Mar 16, 2011
LOC1268603921Mar 16, 2011
LRAT1Mar 16, 2011
LRP51Mar 16, 2011
MERTK3Mar 16, 2011
MKKS1Mar 16, 2011
PCDH152Mar 16, 2011
PDE6A2Mar 16, 2011
PDE6B1Mar 16, 2011
PROM12Mar 16, 2011
PRPH2113May 7, 2020
PSAP1Mar 16, 2011
RGR1Mar 16, 2011
RP12Mar 16, 2011
RPGR2Mar 16, 2011
RPGRIP11Mar 16, 2011
TLR42Mar 16, 2011
TRIM321Mar 16, 2011
TTC81Mar 16, 2011
UBA21Sep 11, 2020
UBAP1L4Sep 24, 2024
USH2A10Mar 16, 2011
ZNF4541Mar 16, 2011

Condition

NameSubmissionsLast Updated
Choroideremia1May 7, 2020
Chromosome 19q13.11 deletion syndrome, distal1Sep 11, 2020
Cone-rod dystrophy9May 7, 2020
Doyne honeycomb retinal dystrophy1May 7, 2020
Patterned dystrophy of the retinal pigment epithelium28May 7, 2020
Retinal dystrophy4Sep 24, 2024
Retinitis pigmentosa19May 7, 2020
Stargardt disease45May 7, 2020
Vitelliform macular dystrophy 29May 7, 2020
not provided95Mar 16, 2011

Testing in GTR

Disease nameNumber of tests
Cone monochromatism1 test
Juvenile retinoschisis1 test