ClinVar Miner

Variants studied for Usher syndrome type 2A

Coded as:
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 risk factor total
288 324 930 267 171 1 1832

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
USH2A 274 309 906 261 168 0 1773
LOC122152296, USH2A 7 15 24 6 3 0 51
ADGRV1 4 0 0 0 0 0 4
PDZD7 1 0 0 0 0 1 2
LOC122152296, LOC126806009, LOC132088648, USH2A 1 0 0 0 0 0 1
LOC122152296, LOC132088648, USH2A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Genome-Nilou Lab 119 187 470 182 123 0 1081
Natera, Inc. 101 19 535 102 91 0 848
Illumina Laboratory Services, Illumina 1 0 101 10 23 0 135
Myriad Genetics, Inc. 7 72 17 0 0 0 96
Mendelics 19 10 4 1 19 0 53
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 5 11 1 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 17 3 3 0 0 0 23
3billion, Medical Genetics 15 4 2 0 0 0 21
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 17 3 0 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 13 4 1 0 0 0 18
Baylor Genetics 11 3 3 0 0 0 17
Counsyl 10 7 0 0 0 0 17
OMIM 13 0 0 0 0 1 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 3 0 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 2 3 0 1 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 0 2 0 0 0 11
National Institute on Deafness and Communication Disorders, National Institutes of Health 10 0 0 0 0 0 10
Institute of Rare Diseases, West China Hospital, Sichuan University 8 2 0 0 0 0 10
DBGen Ocular Genomics 7 2 0 0 0 0 9
Genomics England Pilot Project, Genomics England 7 2 0 0 0 0 9
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 1 3 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 0 0 8
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 6 2 0 0 0 0 8
MGZ Medical Genetics Center 4 1 2 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 2 1 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 5 1 1 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 1 1 0 0 0 6
WangQJ Lab, Chinese People's Liberation Army General Hospital 2 2 2 0 0 0 6
Department of Ophthalmology and Visual Sciences Kyoto University 2 3 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 5 0 0 0 5
Pars Genome Lab 0 0 3 2 0 0 5
Institute of Human Genetics, University of Goettingen 1 2 0 1 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 3 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 1 0 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 1 3 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 1 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 2 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
King Laboratory, University of Washington 2 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 2
Rui Chen Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 2 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 2 0 0 0 0 0 2
FirmaLab, FirmaLab 1 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 1 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Watson Genetic Lab 0 1 0 0 0 0 1
Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences 0 1 0 0 0 0 1

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