ClinVar Miner

Variants in gene KCNV2

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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
65 28 433 216 40 2 719

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 51 5 362 195 34 2 634
Cone dystrophy with supernormal rod response 13 9 64 15 20 0 117
Inborn genetic diseases 0 0 35 3 0 0 38
not specified 0 0 1 4 18 0 23
Retinal dystrophy 4 10 8 0 0 0 22
KCNV2-related condition 1 3 0 11 4 0 19
cone dystrophy with supernormal rod electroretinogram 5 3 0 0 0 0 8
Cone dystrophy 4 0 0 0 0 0 4
Abnormality of the nervous system; Nystagmus 1 0 0 0 0 0 1
Cone dystrophy 3 0 0 0 0 1 0 1
Cone-rod dystrophy 6 0 0 1 0 0 0 1
Progressive cone dystrophy (without rod involvement) 1 0 0 0 0 0 1
Stargardt disease 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 49 3 348 189 33 0 622
Illumina Laboratory Services, Illumina 1 0 54 14 20 0 89
Ambry Genetics 0 0 35 3 0 0 38
PreventionGenetics, part of Exact Sciences 1 3 0 14 13 0 31
Eurofins Ntd Llc (ga) 0 0 12 1 12 0 25
Blueprint Genetics 3 7 8 0 0 0 18
OMIM 12 0 0 0 0 0 12
GeneDx 4 1 4 1 2 0 12
CeGaT Center for Human Genetics Tuebingen 2 1 3 4 1 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 2 4 1 0 9
Sharon lab, Hadassah-Hebrew University Medical Center 5 3 0 0 0 0 8
Clinical Genetics, Academic Medical Center 0 0 2 2 2 0 6
Fulgent Genetics, Fulgent Genetics 0 0 3 1 0 0 4
Molecular Genetics Laboratory, Institute for Ophthalmic Research 3 0 0 0 0 0 3
Revvity Omics, Revvity 1 1 1 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 1 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 3
Mendelics 0 0 1 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
3billion 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 1 0 0 0 0 0 1
Department of Ophthalmology, California Pacific Medical Center 0 0 1 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 0 0 0 0 0 1

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