ClinVar Miner

Variants in gene CYP4V2

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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
66 23 239 123 44 1 443

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 39 10 202 115 42 1 398
Bietti crystalline corneoretinal dystrophy 40 6 33 8 9 0 90
Corneal dystrophy 0 0 35 5 6 0 46
Retinal dystrophy 6 7 18 2 4 0 36
Inborn genetic diseases 0 0 17 0 0 0 17
not specified 0 0 0 0 9 0 9
CYP4V2-related condition 0 0 0 4 0 0 4
Corneal Dystrophy, Recessive 0 0 2 1 0 0 3
Retinitis pigmentosa 2 1 0 0 0 0 3
CYP4V2-Related Disorders 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 9 197 111 19 0 373
Illumina Laboratory Services, Illumina 2 0 38 10 9 0 51
GeneDx 2 0 0 0 32 0 34
GeneReviews 32 0 0 0 0 0 32
Dept Of Ophthalmology, Nagoya University 4 6 15 2 4 0 31
Ambry Genetics 0 0 17 0 0 0 17
Eurofins Ntd Llc (ga) 3 0 4 0 7 0 14
CeGaT Center for Human Genetics Tuebingen 3 2 4 4 0 0 13
OMIM 9 0 0 0 0 0 9
PreventionGenetics, part of Exact Sciences 0 0 0 4 4 0 8
Blueprint Genetics 3 1 3 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 0 3
Mendelics 1 1 0 0 1 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
3billion 2 0 1 0 0 0 3
Revvity Omics, Revvity 2 0 0 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 0 0 0 0 2
The Key Laboratory for Human Disease Gene Study of Sichuan Province, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital 2 0 0 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 0 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
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1

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