ClinVar Miner

Variants studied for GUCY2D-related recessive retinopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
568 547 1392 769 94 5 3290

Gene and significance breakdown #

Total genes and gene combinations: 72
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GUCY2D 159 118 554 673 41 2 1490
CEP290 119 154 429 33 22 0 753
CRB1 67 83 191 33 8 0 376
RPE65 59 85 80 9 9 0 233
GPHN, RDH12 27 20 40 9 2 0 96
LCA5 10 3 24 7 6 2 51
GPHN, RDH12, ZFYVE26 10 16 17 1 0 0 43
RPGRIP1 22 10 1 0 3 0 35
TULP1 22 7 0 0 2 0 30
CEP290, RLIG1 4 9 13 0 0 0 26
AIPL1 11 7 3 2 1 0 23
SPATA7 7 6 0 0 0 0 13
CRX 3 2 1 2 0 0 8
IQCB1 7 2 0 0 0 0 8
NMNAT1 4 5 0 0 0 0 8
ALMS1 4 3 0 0 0 0 7
CEP290, LOC129390514 3 0 4 0 0 0 7
LRAT 1 5 1 0 0 0 7
USH2A 0 1 6 0 0 0 7
PROM1 4 0 0 0 0 0 4
CNGB3 3 0 0 0 0 0 3
LOC130056226, SPATA7 1 2 0 0 0 0 3
RP2 2 1 0 0 0 0 3
USP45 0 0 3 0 0 0 3
ADAMTS18, LOC126862407 0 0 2 0 0 0 2
AHI1 2 0 0 0 0 0 2
CCT2 0 2 0 0 0 0 2
NBAS 1 0 1 0 0 0 2
NPHP4 0 0 2 0 0 0 2
ABCA4 1 0 0 0 0 0 1
ABCA4, LOC126805793 0 1 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D 0 0 1 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, GUCY2D, HES7, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1 0 0 1 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 1
CC2D2A 1 0 0 0 0 0 1
CDHR1 1 0 0 0 0 0 1
CFAP410 1 0 0 0 0 0 1
CLUAP1 1 0 0 0 0 0 1
COPB2-DT, RBP1 0 0 1 0 0 0 1
DTHD1 0 0 1 0 0 0 1
FSCN2 0 0 1 0 0 0 1
GIGYF2, KCNJ13 1 0 0 0 0 0 1
GRM6 1 0 0 0 0 0 1
GRM6, ZNF454 1 0 0 0 0 0 1
GUCA1B 0 0 1 0 0 0 1
IFT140 0 0 1 0 0 0 1
IFT140, LOC126862260 0 0 1 0 0 0 1
IMPDH1 0 0 1 0 0 0 1
INPP5E 0 1 0 0 0 0 1
LOC122152296, USH2A 0 0 1 0 0 0 1
LOC126806932, PCYT1A 1 0 0 0 0 0 1
LRP5 0 0 1 0 0 0 1
NPHP1 0 0 1 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 1
NR2E3 1 0 0 0 0 0 1
OTX2 1 0 0 0 0 0 1
PANK2 0 0 1 0 0 0 1
PDE6A 1 0 0 0 0 0 1
PDE6B 1 0 0 0 0 0 1
PEX1 0 0 0 0 0 1 1
PRPF31 0 0 1 0 0 0 1
RD3 1 0 0 0 0 0 1
RGS9 1 0 0 0 0 0 1
RHO 0 0 1 0 0 0 1
RIMS1 0 0 1 0 0 0 1
RP1 0 0 1 0 0 0 1
RPGR 0 0 1 0 0 0 1
RPGRIP1L 0 1 0 0 0 0 1
SLC38A8 0 1 0 0 0 0 1
TEAD3, TULP1 0 1 0 0 0 0 1
TTC8 0 0 1 0 0 0 1
WDR19 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 242 328 792 89 45 0 1496
Labcorp Genetics (formerly Invitae), Labcorp 113 16 534 664 37 0 1364
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 79 55 0 0 0 0 134
Laboratory of Genetics in Ophthalmology, Institut Imagine 36 38 2 1 0 0 77
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen 23 16 9 8 13 0 69
Mendelics 18 12 6 8 8 0 52
Sharon lab, Hadassah-Hebrew University Medical Center 29 7 0 0 0 0 36
Fulgent Genetics, Fulgent Genetics 9 11 11 2 2 0 35
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 16 11 5 0 0 0 32
Institute of Vision Research, Yonsei University College of Medicine 17 11 0 0 0 0 28
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 10 9 5 0 0 0 24
NIHR Bioresource Rare Diseases, University of Cambridge 8 16 0 0 0 0 24
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 13 3 2 0 0 0 18
DBGen Ocular Genomics 10 5 2 0 0 0 17
Rui Chen Lab, Baylor College of Medicine 15 2 0 0 0 0 17
Molecular Genetics Laboratory, Institute for Ophthalmic Research 14 0 0 0 0 0 14
Cytogenetics and Genomics Laboratory, Medical University of South Carolina 2 5 6 0 0 0 13
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 12 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 0 1 0 11
OMIM 10 0 1 0 0 0 11
3billion 5 4 1 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 4 3 0 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 0 1 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 3 0 0 0 0 7
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 3 3 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Genomics England Pilot Project, Genomics England 0 4 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 2 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Australian Inherited Retinal Disease Registry & DNA Bank, Sir Charles Gairdner Hospital 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 2 0 0 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 0 2 0 0 0 0 2
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 2 0 0 0 0 2
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 2 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 0 1
Department of Pediatric Laboratory, Wuxi Children's Hospital 0 1 0 0 0 0 1
Dr. Oladnabi Research Group, Golestan University of Medical Sciences 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Noruzinia Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1

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