ClinVar Miner

Variants in gene KCNV2

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
37 20 220 57 30 2 340

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 18 2 164 42 16 2 242
Cone dystrophy with supernormal rod response 13 5 58 14 20 0 107
Retinal dystrophy 4 10 8 0 0 0 22
not specified 0 0 0 4 17 0 21
cone dystrophy with supernormal rod electroretinogram 5 3 0 0 0 0 8
Cone dystrophy 3 0 0 0 0 0 3
See cases 0 0 2 0 0 0 2
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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 17 1 154 40 16 0 228
Illumina Clinical Services Laboratory,Illumina 1 0 54 14 20 0 89
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 12 1 12 0 25
Blueprint Genetics 3 7 8 0 0 0 18
OMIM 12 0 0 0 0 0 12
PreventionGenetics, PreventionGenetics 0 0 0 3 9 0 12
Sharon lab,Hadassah-Hebrew University Medical Center 5 3 0 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 3 0 0 0 6
GeneDx 2 0 1 1 0 0 4
Molecular Genetics Laboratory,Institute for Ophthalmic Research 3 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 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

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