ClinVar Miner

Variants in gene EYS

Minimum submission review status: Collection method:
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Gene type:
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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
57 77 174 49 67 1 368

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 17 10 58 3 35 0 123
Retinitis Pigmentosa, Recessive 0 0 83 28 6 0 117
Retinitis pigmentosa 25 29 19 32 13 8 0 97
Retinitis pigmentosa 18 41 15 1 0 0 70
not specified 0 0 1 8 39 0 47
Retinal dystrophy 2 10 0 0 0 0 12
See cases 0 0 4 2 0 0 6
Macular dystrophy 1 1 1 0 0 0 3
Astigmatism; Cystoid macular edema; Abnormal electroretinogram; Pigmentary retinopathy; Dyschromatopsia; Abnormality of retinal pigmentation; Electronegative electroretinogram 0 0 1 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
Stargardt disease 0 1 0 0 0 0 1
Visual impairment; Retinal dystrophy; Abnormality of color vision; Horizontal nystagmus 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 2 91 28 6 0 127
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 1 28 5 29 0 78
Counsyl 4 14 28 7 0 0 53
GeneDx 2 3 2 4 34 0 45
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 24 1 0 0 30
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 9 14 5 0 0 0 28
NIHR Bioresource Rare Diseases,University of Cambridge 4 21 2 1 0 0 28
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 24 0 24
Department of Ophthalmology and Visual Sciences Kyoto University 6 10 0 1 0 0 17
Human Genetics - Radboudumc,Radboudumc 13 0 4 0 0 0 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 1 6 6 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 1 1 6 0 9
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 1 5 0 0 0 0 6
OMIM 5 0 0 0 0 0 5
Fulgent Genetics 1 2 2 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 5 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 1 1 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 1 0 0 0 4
Sema4,Sema4 0 2 0 0 0 0 2
ISCA site 6 0 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 2 0 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 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

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