ClinVar Miner

Variants in gene EYS

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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
272 158 722 387 99 1 1454

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 219 64 454 356 67 0 1138
Retinitis pigmentosa 57 44 182 28 38 0 321
Retinitis pigmentosa 25 54 24 74 20 21 0 174
Autosomal recessive retinitis pigmentosa 8 0 138 1 0 0 147
Retinal dystrophy 21 44 39 0 0 0 101
not specified 0 0 1 7 36 0 43
Retinitis Pigmentosa, Recessive 0 0 4 2 2 0 8
See cases 0 0 4 2 0 0 6
Macular dystrophy 1 1 1 0 0 0 3
Choroidal dystrophy central areolar 1 0 0 0 0 0 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

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 201 56 393 352 38 0 1040
Natera, Inc. 19 6 202 24 37 0 288
Illumina Clinical Services Laboratory,Illumina 0 2 162 12 32 0 208
Blueprint Genetics 20 35 39 0 0 0 94
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 11 0 26 4 26 0 67
CeGaT Praxis fuer Humangenetik Tuebingen 16 5 29 5 0 0 55
GeneDx 3 2 2 5 34 0 46
Counsyl 4 7 25 4 0 0 40
Ocular Genomics Institute, Massachusetts Eye and Ear 17 11 5 0 0 0 33
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 8 12 4 0 0 0 24
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 24 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
Sharon lab,Hadassah-Hebrew University Medical Center 19 2 0 0 0 0 21
Mendelics 13 1 2 0 3 0 19
Human Genetics - Radboudumc,Radboudumc 12 0 4 0 0 0 16
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 14 1 0 0 15
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 1 6 6 0 15
Department of Ophthalmology and Visual Sciences Kyoto University 4 9 0 1 0 0 14
Molecular Genetics Laboratory,Institute for Ophthalmic Research 13 0 0 0 0 0 13
Lineagen, Inc 7 0 5 0 0 0 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 3 0 0 0 0 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 8 2 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 8 0 8
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 4 0 0 0 0 6
Faculty of Health Sciences,Beirut Arab University 5 0 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 1 1 2 0 0 0 4
INSERM U1051, Institut des Neurosciences de Montpellier 3 1 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 1 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 0 3
Pars Genome Lab 0 0 0 3 0 0 3
Sema4,Sema4 0 2 0 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
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 2
Nilou-Genome Lab 0 0 0 2 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
ISCA site 4 0 0 1 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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