ClinVar Miner

Variants in gene EYS

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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
790 619 1868 1849 242 16 4820

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 649 157 1200 1774 231 0 3931
Retinitis pigmentosa 25 188 418 518 66 57 1 1148
Retinal dystrophy 102 73 166 22 29 0 381
Inborn genetic diseases 0 0 350 30 0 0 380
Retinitis pigmentosa 91 70 176 28 38 0 373
Autosomal recessive retinitis pigmentosa 5 0 138 1 0 0 144
not specified 8 0 61 29 57 0 136
EYS-related disorder 8 4 12 32 4 0 60
Retinitis pigmentosa 40 5 1 0 0 0 0 6
See cases 1 0 1 3 0 0 5
Cone-rod dystrophy 1 0 2 0 0 0 3
EYS-related retinopathy 0 3 0 0 0 0 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Macular dystrophy 1 2 0 0 0 0 3
Malignant tumor of esophagus 0 0 0 0 0 2 2
Optic atrophy 0 0 2 0 0 0 2
Retinal disorder 1 0 1 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Abnormality of the eye 1 0 0 0 0 0 1
Central areolar choroidal dystrophy 1 0 0 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Normal pregnancy 0 0 0 0 0 1 1
Retinal detachment; Visual impairment; Rod-cone dystrophy; Central scotoma; Blurred vision 0 0 1 0 0 0 1
Retinitis punctata albescens 1 0 0 0 0 0 1
Stargardt disease 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 94
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 622 143 1121 1734 136 0 3756
Natera, Inc. 90 158 587 61 45 0 941
Ambry Genetics 0 0 350 30 0 0 380
Baylor Genetics 84 214 7 0 0 0 305
GeneDx 26 7 27 15 145 0 220
Illumina Laboratory Services, Illumina 1 2 148 10 30 0 191
Dept Of Ophthalmology, Nagoya University 43 17 77 22 29 0 188
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 35 19 55 23 23 0 155
Fulgent Genetics, Fulgent Genetics 40 73 35 6 0 0 154
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 51 11 59 0 0 0 121
CeGaT Center for Human Genetics Tuebingen 30 7 38 28 4 0 107
Blueprint Genetics 19 35 40 0 0 0 94
Eurofins Ntd Llc (ga) 11 0 26 4 26 0 67
Genome-Nilou Lab 1 3 12 5 42 0 63
PreventionGenetics, part of Exact Sciences 8 4 12 32 4 0 60
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 15 1 5 3 22 0 46
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 5 0 4 21 15 0 45
3billion 23 8 10 0 0 0 41
Revvity Omics, Revvity 17 17 7 0 0 0 41
Counsyl 4 7 25 4 0 0 40
Ocular Genomics Institute, Massachusetts Eye and Ear 17 11 5 0 0 0 33
Breakthrough Genomics, Breakthrough Genomics 0 0 8 23 0 0 31
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 22 4 0 0 29
Clinical Genetics, Academic Medical Center 8 0 3 4 12 0 27
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 8 12 4 0 0 0 24
Mendelics 15 1 4 0 4 0 24
NIHR Bioresource Rare Diseases, University of Cambridge 4 18 1 1 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 3 4 13 0 22
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 17 4 0 0 0 0 21
Sharon lab, Hadassah-Hebrew University Medical Center 19 2 0 0 0 0 21
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 18 1 0 0 20
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 9 8 2 0 0 0 19
Myriad Genetics, Inc. 10 6 0 0 0 0 16
SingHealth Duke-NUS Institute of Precision Medicine 1 14 0 0 0 0 15
DBGen Ocular Genomics 7 2 5 0 0 0 14
Department of Ophthalmology and Visual Sciences Kyoto University 4 9 0 1 0 0 14
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 14 14
Ophthalmology, Kobe City Eye Hospital 12 2 0 0 0 0 14
Molecular Genetics Laboratory, Institute for Ophthalmic Research 13 0 0 0 0 0 13
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 8 0 4 0 0 0 12
Bionano Laboratories 7 0 5 0 0 0 12
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 7 4 0 0 0 0 11
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University 4 5 2 0 0 0 11
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 8 1 1 0 0 0 10
Dasa 8 1 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 9 0 9
First Genomix Gene Laboratory, Genetic Diagnostics Department 3 5 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 5 0 2 0 0 0 7
MGZ Medical Genetics Center 2 4 1 0 0 0 7
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 4 0 0 0 0 6
Medical and Scientific Branch, Hong Kong Genome Institute 5 1 0 0 0 0 6
Faculty of Health Sciences, Beirut Arab University 5 0 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 0 0 0 4
INSERM U1051, Institut des Neurosciences de Montpellier 3 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 1 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 1 0 0 0 4
Pars Genome Lab 0 0 1 3 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 3 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 0 0 0 3
OMIM 3 0 0 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 2 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 1 0 0 2
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 1 0 0 0 2
ISCA Site 6 0 0 1 1 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Sema4, Sema4 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 1 0 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1

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