ClinVar Miner

Variants studied for Usher syndrome type 2

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 not provided total
366 407 1529 337 279 1 4 2723

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
USH2A 294 357 1000 273 168 0 2 1922
ADGRV1 44 31 386 47 77 0 1 565
WHRN 6 1 109 8 21 0 1 145
LOC122152296, USH2A 9 15 26 6 3 0 0 53
PDZD7 1 2 6 1 8 1 0 19
MYO7A 3 0 0 0 0 0 0 3
USH1C 3 0 0 0 0 0 0 3
CDH23 2 0 0 0 0 0 0 2
ADGRV1, LOC123497934, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273 1 0 0 0 0 0 0 1
ADGRV1, LOC129389321 0 1 0 0 0 0 0 1
CDH23, LOC111982869 1 0 0 0 0 0 0 1
CNKSR1 0 0 0 0 1 0 0 1
CRYGC, LOC100507443 0 0 0 0 1 0 0 1
FRAS1 0 0 0 1 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 0 1
LOC122152296, LOC126806009, LOC132088648, USH2A 1 0 0 0 0 0 0 1
LOC122152296, LOC132088648, USH2A 1 0 0 0 0 0 0 1
SFTPC 0 0 1 0 0 0 0 1
WDR36 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Genome-Nilou Lab 119 187 470 182 151 0 0 1109
Natera, Inc. 101 19 535 102 91 0 0 848
Illumina Laboratory Services, Illumina 1 1 513 51 106 0 0 672
Counsyl 60 159 211 31 0 0 0 461
Fulgent Genetics, Fulgent Genetics 41 17 155 46 23 0 0 282
Myriad Genetics, Inc. 7 72 17 0 0 0 0 96
Mendelics 23 11 6 1 26 0 0 67
Molecular Genetics Laboratory, Institute for Ophthalmic Research 32 0 0 0 0 0 0 32
Baylor Genetics 12 4 14 0 0 0 0 30
Sharon lab, Hadassah-Hebrew University Medical Center 21 6 0 0 0 0 0 27
OMIM 25 0 0 0 0 1 0 26
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 20 6 0 0 0 0 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 5 11 1 0 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 0 8 0 0 0 0 22
3billion 15 5 2 0 0 0 0 22
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 16 3 0 0 0 0 0 19
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 2 5 0 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 8 3 2 0 0 0 0 13
WangQJ Lab, Chinese People's Liberation Army General Hospital 2 5 5 0 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 5 2 4 0 0 0 0 11
National Institute on Deafness and Communication Disorders, National Institutes of Health 10 0 0 0 0 0 0 10
Ocular Genomics Institute, Massachusetts Eye and Ear 1 2 7 0 0 0 0 10
DBGen Ocular Genomics 7 2 1 0 0 0 0 10
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 6 4 0 0 0 0 0 10
Genomics England Pilot Project, Genomics England 7 2 0 0 0 0 0 9
Department of Ophthalmology and Visual Sciences Kyoto University 2 6 0 0 0 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 2 2 0 0 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 1 2 2 0 0 8
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 6 2 0 0 0 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 2 3 0 0 0 0 8
MGZ Medical Genetics Center 4 1 2 0 0 0 0 7
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 6 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 1 0 0 0 0 0 7
King Laboratory, University of Washington 3 3 0 0 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 0 2 0 0 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 6 0 0 0 0 6
Institute of Human Genetics, University of Goettingen 1 3 0 1 0 0 0 5
Pars Genome Lab 0 0 3 2 0 0 0 5
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 3 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 1 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 2 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 2 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 1 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 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 0 2
Rui Chen Lab, Baylor College of Medicine 2 0 0 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 0 2
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 1 0 0 0 0 2
INGEBI, INGEBI / CONICET 2 0 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 0 1

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