ClinVar Miner

Variants in gene IMPG2

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 total
49 46 327 48 20 450

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 27 15 182 36 8 261
Retinitis pigmentosa 9 5 128 10 13 164
Retinal dystrophy 7 22 17 0 0 46
Retinitis Pigmentosa, Recessive 0 0 14 0 0 14
Retinitis pigmentosa 56 9 1 3 0 0 13
Autosomal recessive retinitis pigmentosa 7 0 0 0 0 7
Macular dystrophy, vitelliform, 5 4 1 1 0 0 6
not specified 0 0 1 2 1 4
Macular dystrophy 0 2 1 0 0 3
Vitelliform macular dystrophy type 2 2 1 0 0 0 3
none provided 0 0 1 1 0 2
Abnormality of the eye 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 26 8 173 36 7 250
Illumina Clinical Services Laboratory,Illumina 0 0 141 10 13 164
Blueprint Genetics 6 19 17 0 0 42
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 14 1 1 18
Molecular Genetics Laboratory,Institute for Ophthalmic Research 8 0 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 6 0 0 7
Faculty of Health Sciences,Beirut Arab University 7 0 0 0 0 7
OMIM 6 0 0 0 0 6
Developmental Genetics Unit,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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 2 0 0 4
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 2 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 1 0 3
GeneDx 0 2 1 0 0 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
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 1 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 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
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 1
Department of Genetics,Fundacion Jimenez Diaz University Hospital 0 1 0 0 0 1

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