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
156 116 350 168 97 1 781

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 107 32 168 145 67 0 502
Retinitis pigmentosa 33 36 160 11 30 0 261
Retinitis pigmentosa 25 42 13 30 11 17 0 106
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
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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 87 26 106 141 38 0 398
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 14 5 27 3 0 0 49
GeneDx 3 2 2 5 34 0 46
Counsyl 4 7 25 4 0 0 40
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
Sharon lab,Hadassah-Hebrew University Medical Center 19 2 0 0 0 0 21
Mendelics 13 1 2 0 3 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 3 2 11 0 18
Human Genetics - Radboudumc,Radboudumc 12 0 4 0 0 0 16
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
Lineagen, Inc 7 0 5 0 0 0 12
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 12 0 0 0 12
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
OMIM 4 0 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 1 1 2 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 0 0 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: University of Minnesota 2 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1

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