ClinVar Miner

Variants in gene USH2A

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
1649 1349 3652 3762 458 65 9514

Condition and significance breakdown #

Total conditions: 71
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 1364 349 2361 3627 430 11 7741
Usher syndrome type 2A 385 544 1266 271 168 0 2432
Retinitis pigmentosa 39 342 537 516 163 79 0 1492
Retinal dystrophy 213 199 367 63 42 0 835
Usher syndrome type 2A; Retinitis pigmentosa 39 141 298 289 56 8 6 756
not specified 4 0 356 258 165 1 719
Inborn genetic diseases 5 2 549 39 0 0 595
Retinitis pigmentosa 60 100 153 8 14 3 322
Usher syndrome 136 119 25 8 5 0 277
USH2A-related disorder 56 29 37 66 3 7 192
Rare genetic deafness 70 23 0 0 0 0 93
Usher syndrome type 2 56 8 5 0 0 0 69
Retinal disorder 18 4 2 0 0 0 24
Hearing impairment 3 2 17 1 0 0 22
Monogenic hearing loss 17 3 2 0 0 0 22
Retinitis pigmentosa 40 21 0 0 0 0 0 21
Cone-rod dystrophy 4 1 4 0 0 0 9
See cases 7 1 0 1 0 0 9
Leber congenital amaurosis 0 1 6 0 0 0 7
Autosomal recessive USH2A-related disorders 3 3 0 0 0 0 6
Autosomal recessive retinitis pigmentosa 6 0 0 0 0 0 6
Ear malformation 5 1 0 0 0 0 6
Lung cancer 0 0 0 0 0 6 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Melanoma 0 0 0 0 0 5 5
Usher syndrome; Rare genetic deafness 4 1 0 0 0 0 5
Autosomal dominant nonsyndromic hearing loss 36 1 2 1 0 0 0 4
Gastric cancer 0 0 0 0 0 4 4
Nonsyndromic genetic hearing loss 4 0 0 0 0 0 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
Visual impairment 0 1 2 0 0 0 3
Childhood onset hearing loss 0 0 2 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Cone-rod dystrophy 3 0 0 2 0 0 0 2
Congenital sensorineural hearing impairment 1 1 0 0 0 0 2
Congenital stationary night blindness 1 0 1 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Joubert syndrome; Congenital cerebellar hypoplasia; Motor delay; Delayed speech and language development; Amblyopia; Hypoplasia of the brainstem; Congenital sensorineural hearing impairment; Cerebellar hemisphere hypoplasia 0 0 2 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Optic atrophy 0 0 2 0 0 0 2
Retinal dystrophy; Retinal degeneration 1 0 1 0 0 0 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Usher syndrome type 1 0 2 0 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Bardet-Biedl syndrome 0 0 1 0 0 0 1
Blindness; Rod-cone dystrophy; Pigmentary retinopathy; Abnormal macular morphology; Retinal pigment epithelial atrophy 1 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Deafness 1 0 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Hearing loss 0 0 1 0 0 0 1
Hearing loss, autosomal recessive 0 1 0 0 0 0 1
Macular dystrophy 1 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Mesothelioma 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Progressive cone dystrophy (without rod involvement) 0 0 1 0 0 0 1
Prostate cancer 0 0 1 0 0 0 1
Sensorineural hearing loss disorder 0 1 0 0 0 0 1
Stargardt-like macular dystrophy 1 0 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Usher syndrome type 2A; Retinitis pigmentosa 39; USH2A-related disorder 0 0 0 0 0 1 1
Usher syndrome type 3A 1 0 0 0 0 0 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 171
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1306 237 1906 3371 223 0 7043
Natera, Inc. 238 265 879 111 88 0 1581
GeneDx 135 58 503 269 327 0 1292
Genome-Nilou Lab 138 236 460 179 122 0 1133
Baylor Genetics 300 327 19 0 0 0 643
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 84 28 163 194 146 1 616
Ambry Genetics 5 2 549 39 0 0 595
Counsyl 72 169 204 30 0 0 475
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 95 81 202 49 34 0 461
Fulgent Genetics, Fulgent Genetics 99 151 81 26 8 0 365
Blueprint Genetics 114 93 137 0 0 0 344
CeGaT Center for Human Genetics Tuebingen 67 19 117 101 16 0 320
Dept Of Ophthalmology, Nagoya University 33 32 129 53 42 0 289
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 99 72 105 10 1 0 287
Eurofins Ntd Llc (ga) 40 4 147 18 54 0 263
Breakthrough Genomics, Breakthrough Genomics 0 0 20 66 122 0 208
PreventionGenetics, part of Exact Sciences 32 13 36 68 33 0 182
Illumina Laboratory Services, Illumina 6 0 107 11 22 0 134
Myriad Genetics, Inc. 26 75 13 0 0 0 114
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 30 13 63 0 110
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 22 9 42 12 21 0 106
Revvity Omics, Revvity 38 24 40 1 0 0 103
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 15 1 29 35 15 0 95
Ocular Genomics Institute, Massachusetts Eye and Ear 19 39 35 0 1 0 94
Clinical Genetics, Academic Medical Center 19 6 22 20 20 0 87
NIHR Bioresource Rare Diseases, University of Cambridge 11 47 26 2 0 0 86
3billion 34 27 14 0 0 0 75
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 41 14 2 0 0 0 57
Mayo Clinic Laboratories, Mayo Clinic 4 0 12 2 37 0 55
Molecular Genetics Laboratory, Institute for Ophthalmic Research 53 0 0 0 0 0 53
Mendelics 16 11 5 1 17 0 50
ClinGen Hearing Loss Variant Curation Expert Panel 15 8 14 7 5 0 49
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 12 21 15 0 0 0 48
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 11 23 13 0 0 0 47
Sharon lab, Hadassah-Hebrew University Medical Center 21 25 0 0 0 0 46
Athena Diagnostics 1 0 6 6 32 0 45
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 29 7 4 0 0 0 40
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 39 39
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 24 12 3 0 0 0 39
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 29 4 5 0 0 0 38
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 17 9 13 0 0 0 37
Department of Pathology and Laboratory Medicine, Sinai Health System 6 4 25 1 0 0 36
DBGen Ocular Genomics 13 12 8 0 0 0 33
Institute of Human Genetics, University of Leipzig Medical Center 21 8 4 0 0 0 32
Dasa 29 0 0 0 0 0 29
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 5 12 1 0 0 26
SingHealth Duke-NUS Institute of Precision Medicine 4 19 0 0 0 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 4 4 5 1 0 20
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 10 7 3 0 0 0 20
Department of Ophthalmology and Visual Sciences Kyoto University 6 11 0 2 0 0 19
Genomics England Pilot Project, Genomics England 15 4 0 0 0 0 19
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 15 3 0 0 0 0 18
Genetics and Molecular Pathology, SA Pathology 10 4 3 0 0 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 15 1 1 0 0 0 17
OMIM 17 0 0 0 0 0 17
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 1 12 1 0 0 15
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 9 4 1 0 0 0 14
Clinical Genetics Laboratory, Skane University Hospital Lund 6 1 5 0 0 0 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 3 0 0 0 0 12
Medical and Scientific Branch, Hong Kong Genome Institute 7 5 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 2 5 5 0 0 0 12
Centre of Medical Genetics, University Hospital Muenster 9 0 2 0 0 0 11
First Genomix Gene Laboratory, Genetic Diagnostics Department 4 7 0 0 0 0 11
Institute of Rare Diseases, West China Hospital, Sichuan University 8 2 0 0 0 0 10
Laboratory of Prof. Karen Avraham, Tel Aviv University 6 1 3 0 0 0 10
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 10 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 4 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
National Institute on Deafness and Communication Disorders, National Institutes of Health 6 0 2 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 5 0 7
Faculty of Health Sciences, Beirut Arab University 7 0 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
MGZ Medical Genetics Center 4 1 2 0 0 0 7
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 5 2 0 0 0 0 7
Variantyx, Inc. 4 3 0 0 0 0 7
Kariminejad - Najmabadi Pathology & Genetics Center 5 1 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 1 1 0 0 0 6
MVZ Martinsried, Medicover Genetics 3 2 1 0 0 0 6
WangQJ Lab, Chinese People's Liberation Army General Hospital 2 2 2 0 0 0 6
AiLife Diagnostics, AiLife Diagnostics 1 2 2 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 1 0 0 0 0 5
GeneReviews 0 2 0 0 0 3 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 2 0 0 0 5
Pars Genome Lab 0 0 3 2 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 5 0 0 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 3 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 1 0 0 0 0 4
Cytogenetics and Genomics Laboratory, Medical University of South Carolina 0 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 2 0 0 0 4
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 3 1 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 3 0 0 0 4
INSERM U1051, Institut des Neurosciences de Montpellier 1 2 1 0 0 0 4
Institute of Human Genetics, University of Goettingen 1 2 0 1 0 0 4
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital 1 2 1 0 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 3 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 0 0 0 4
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 2 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 2 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 2 0 0 0 3
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 1 2 0 0 0 3
Department of Genetics, Suzhou Beikang Medical Laboratory 0 3 0 0 0 0 3
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 2 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 2 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 1 2 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 1 1 0 3
Laboratory of Human Genetics, Universidade de São Paulo 2 0 1 0 0 0 3
MVZ Medizinische Genetik Mainz 2 0 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 1 0 3
Otogenetics 2 1 0 0 0 0 3
Pangenia Genomics, Pangenia Inc. 1 0 2 0 0 0 3
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 2
Bionano Laboratories 2 0 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 1 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 1 0 0 0 2
Center for Statistical Genetics, Columbia University 2 0 0 0 0 0 2
Centre for Human Genetics, University of Kinshasa 2 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 1 0 0 0 0 2
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 2 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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 0 0 0 2
INGEBI, INGEBI / CONICET 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 2
King Laboratory, University of Washington 2 0 0 0 0 0 2
Laboratory of Molecular, Cellular and Translation Genetics in Otolaryngology/ Lim32-hcfmusp, University of Sao Paulo School of Medicine Clinics Hospital 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 2 0 0 0 2
Rui Chen Lab, Baylor College of Medicine 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Wonkam Laboratory, Johns Hopkins University 0 1 0 1 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 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
Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital 1 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 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
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Ningxia Clinical Research Institute, People's Hospital of Ningxia Hui Autonomous Region 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Servicio Extremeño de Salud, Hospital de Mérida 0 1 0 0 0 0 1
The Key Laboratory for Human Disease Gene Study of Sichuan Province, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital 1 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1

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