ClinVar Miner

Variants studied for color vision disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
222 169 370 61 76 10 825

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNGB3 102 71 160 35 38 3 360
CNGA3 56 69 92 9 10 1 217
PDE6C 17 13 72 11 10 1 119
GNAT2 13 4 25 4 4 1 47
ATF6 14 8 2 1 6 2 31
PDE6H 1 1 11 1 5 1 17
OPN1LW 5 1 1 0 2 0 9
GNAT2, LOC129388577 2 0 5 0 0 0 7
OPN1MW 6 0 0 0 0 0 6
OPN1SW 3 0 0 0 1 1 5
CABP4 1 0 1 0 0 0 2
GNAI3, GNAT2, MIR197 0 1 0 0 0 0 1
LOC125467793, OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 1
OPA3 0 1 0 0 0 0 1
OPN1MW2 0 0 1 0 0 0 1
RUNX2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 4 3 235 33 46 0 321
Molecular Genetics Laboratory, Institute for Ophthalmic Research 132 55 35 1 5 0 226
Natera, Inc. 14 3 79 24 23 0 143
Counsyl 2 33 7 0 0 0 42
OMIM 41 0 0 0 0 0 41
Genome-Nilou Lab 1 0 9 4 23 0 37
Sharon lab, Hadassah-Hebrew University Medical Center 19 10 0 0 0 0 29
Fulgent Genetics, Fulgent Genetics 8 3 9 0 0 0 20
Laboratory of Genetics in Ophthalmology, Institut Imagine 11 6 0 0 0 0 17
Mendelics 7 2 1 1 5 0 16
Myriad Genetics, Inc. 0 14 2 0 0 0 16
3billion 10 2 3 0 0 0 15
Revvity Omics, Revvity 7 4 2 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 1 3 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 2 0 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 3 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 4 2 0 0 0 9
DBGen Ocular Genomics 3 5 1 0 0 0 9
Baylor Genetics 4 1 2 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 0 0 0 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 2 1 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 2 0 0 0 0 6
Institute of Medical Molecular Genetics, University of Zurich 0 6 0 0 0 0 6
GeneReviews 0 0 0 0 0 6 6
NIHR Bioresource Rare Diseases, University of Cambridge 1 5 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 3 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 1 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 1 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 4
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 0 0 0 0 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 0 1 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 1

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