ClinVar Miner

Variants in gene CYP4V2

Minimum submission review status: Collection method:
Minimum conflict level:
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
47 11 191 37 33 1 277

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bietti crystalline corneoretinal dystrophy 37 5 107 11 26 0 180
not provided 17 4 82 21 7 1 128
Corneal dystrophy 0 0 95 9 16 0 120
Corneal Dystrophy, Recessive 0 0 21 2 1 0 24
not specified 0 0 0 0 10 0 10
Retinal dystrophy 3 1 3 0 0 0 7
CYP4V2-Related Disorders 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Retinitis pigmentosa 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 2 0 118 17 26 0 147
Invitae 14 3 76 19 7 0 119
GeneReviews 33 0 0 0 0 0 33
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 4 0 8 0 15
OMIM 9 0 0 0 0 0 9
Blueprint Genetics 3 1 3 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 4 0 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 0 5 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 3
Mendelics 0 1 0 0 2 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 2 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
GeneDx 1 0 0 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1

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