ClinVar Miner

Variants studied for color vision disorder

Included ClinVar conditions (16):
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
245 224 385 61 77 10 897

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNGB3 108 99 162 35 38 3 389
CNGA3 70 89 93 9 10 1 240
PDE6C 19 18 77 11 10 1 130
GNAT2 13 5 27 4 4 1 50
ATF6 14 9 3 1 7 2 33
PDE6H 2 1 12 1 5 1 18
OPN1LW 5 1 2 0 2 0 10
GNAT2, LOC129388577 3 0 6 0 0 0 9
OPN1MW 6 0 0 0 0 0 6
OPN1SW 3 0 1 0 1 1 6
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

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 4 3 233 33 46 0 319
Molecular Genetics Laboratory, Institute for Ophthalmic Research 132 55 35 1 5 0 226
Natera, Inc. 14 3 79 24 23 0 143
Fulgent Genetics, Fulgent Genetics 29 50 9 0 0 0 88
Counsyl 2 33 7 0 0 0 42
OMIM 41 0 0 0 0 0 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 9 0 0 0 0 40
Genome-Nilou Lab 1 0 9 4 23 0 37
3billion 13 11 6 0 0 0 30
Sharon lab, Hadassah-Hebrew University Medical Center 19 10 0 0 0 0 29
Department of Pathology and Laboratory Medicine, Sinai Health System 3 3 14 1 0 0 21
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
Revvity Omics, Revvity 7 4 2 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 5 3 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 1 3 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 3 0 0 0 0 10
DBGen Ocular Genomics 3 5 1 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 0 0 0 0 8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 5 3 0 0 0 0 8
Baylor Genetics 4 1 2 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 1 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 1 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 2 3 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 3 0 0 0 0 5
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 4 1 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 0 0 0 0 0 4
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
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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 2 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
Daryl Scott Lab, Baylor College of Medicine 1 0 1 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
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 2
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 2 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
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
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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Pars Genome Lab 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
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 0 0 0 0 1

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