ClinVar Miner

Variants in gene IMPG2

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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 total
84 65 565 242 39 927

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 62 33 402 230 27 739
Retinitis pigmentosa 9 5 129 10 13 165
Retinal dystrophy 7 22 17 0 0 46
Inborn genetic diseases 0 0 44 1 0 45
Retinitis pigmentosa 56 11 2 4 0 3 20
Retinitis Pigmentosa, Recessive 0 0 14 0 0 14
Vitelliform macular dystrophy 5 6 3 2 0 3 13
not specified 0 0 1 2 6 9
Autosomal recessive retinitis pigmentosa 7 0 0 0 0 7
Macular dystrophy 0 2 1 0 0 3
Retinitis pigmentosa 56; Vitelliform macular dystrophy 5 0 0 2 0 1 3
Vitelliform macular dystrophy 2 2 1 0 0 0 3
Abnormality of the eye 1 0 0 0 0 1
Cone-rod dystrophy 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1
Vitelliform macular dystrophy 3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 60 22 389 224 26 721
Illumina Laboratory Services, Illumina 0 0 141 10 13 164
Ambry Genetics 0 0 44 1 0 45
Blueprint Genetics 6 19 17 0 0 42
Eurofins Ntd Llc (ga) 2 0 14 1 1 18
CeGaT Center for Human Genetics Tuebingen 0 2 10 5 0 17
GeneDx 2 4 8 0 2 16
Molecular Genetics Laboratory, Institute for Ophthalmic Research 8 0 0 0 0 8
Clinical Genetics, Academic Medical Center 3 0 2 0 3 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 0 1 0 3 8
OMIM 7 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 1 2 1 7
Faculty of Health Sciences, Beirut Arab University 7 0 0 0 0 7
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 4 0 1 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 1 4 0 0 0 5
Revvity Omics, Revvity Omics 0 2 2 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 4
DBGen Ocular Genomics 4 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 0 3
MGZ Medical Genetics Center 0 2 1 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 1 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 2 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 0 1 0 0 1
Medical Retina And Imaging, Irccs Ospedale San Raffaele 0 1 0 0 0 1

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