ClinVar Miner

Variants studied for Usher syndrome

Included ClinVar conditions (38):
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
693 1011 4217 867 683 1 39 6953

Gene and significance breakdown #

Total genes and gene combinations: 61
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
USH2A 323 403 1017 279 171 0 2 1989
MYO7A 116 229 644 91 90 0 11 1077
CDH23 46 37 706 108 112 0 10 937
PCDH15 37 157 551 76 69 0 5 836
ADGRV1 57 57 386 47 77 0 1 598
HARS1 2 1 290 149 16 0 1 457
USH1C 20 52 201 31 56 0 3 337
WHRN 8 2 110 9 22 0 1 150
CLRN1 21 21 71 13 12 0 1 129
C10orf105, CDH23 7 7 79 17 16 0 1 114
USH1G 15 8 57 12 7 0 2 99
LOC122152296, USH2A 10 15 26 6 3 0 0 53
CDH23, PSAP 0 0 23 12 12 0 0 34
HARS1, LOC129994848 0 1 19 10 2 0 0 31
PDZD7 3 2 6 1 8 1 0 21
ARSG 10 1 0 1 3 0 0 15
CDH23, LOC111982869 1 3 9 1 1 0 0 14
LOC105378311, PCDH15 1 3 5 0 2 0 0 10
CIB2 3 3 2 1 0 0 1 9
CDH23, VSIR 0 0 0 1 1 0 0 2
PDE6A 0 0 2 0 0 0 0 2
PROM1 1 0 1 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
ARSG, LOC130061524 0 0 1 0 0 0 0 1
ARSG, PRKAR1A 1 0 0 0 0 0 0 1
ATP6V1B1 0 0 1 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LINC02817, LINC02869, LOC107325941, LOC110121042, LOC111429604, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC121725074, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, LYPLAL1, LYPLAL1-DT, MARK1, MIR194-1, MIR215, MIR664A, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SNORA36B, SPATA17, TAF1A, TGFB2, TGFB2-OT1, TRT-TGT2-1, USH2A, ZC3H11B 0 1 0 0 0 0 0 1
CABP4 0 1 0 0 0 0 0 1
CCDC40 0 1 0 0 0 0 0 1
CDH23, LOC130004038, VSIR 0 0 0 0 1 0 0 1
CEP250 1 0 0 0 0 0 0 1
CNKSR1 0 0 0 0 1 0 0 1
COCH, LOC100506071 0 0 1 0 0 0 0 1
COL4A4 0 0 1 0 0 0 0 1
CRB1 1 0 0 0 0 0 0 1
CRX 0 0 1 0 0 0 0 1
CRYGC, LOC100507443 0 0 0 0 1 0 0 1
DGKQ, LOC129991967 0 0 1 0 0 0 0 1
DND1, HARS1, HARS2 0 0 1 0 0 0 0 1
ESPN 1 0 0 0 0 0 0 1
FMC1, FMC1-LUC7L2, LUC7L2 0 1 0 0 0 0 0 1
FRAS1 0 0 0 1 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 1 0 0 0 0 0 0 1
HDAC6 0 0 1 0 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 0 1
LOC105378311, MIR548F1, PCDH15 0 1 0 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
LOC126806009, USH2A 1 0 0 0 0 0 0 1
LOC126806529, PAX3 0 0 1 0 0 0 0 1
LOC130061627, USH1G 0 1 0 0 0 0 0 1
MT-TS2 1 0 0 0 0 0 0 1
OTOA 0 1 0 0 0 0 0 1
OTOP2, USH1G 0 1 0 0 0 0 0 1
PRPH2 0 1 0 0 0 0 0 1
SERPINB6 0 0 1 0 0 0 0 1
SFTPC 0 0 1 0 0 0 0 1
SLC9B1 1 0 0 0 0 0 0 1
WDR36 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 120
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Natera, Inc. 183 47 1863 277 293 0 0 2663
Illumina Laboratory Services, Illumina 3 1 1269 165 259 0 0 1689
Genome-Nilou Lab 119 188 548 216 335 0 0 1406
Counsyl 89 362 580 73 2 0 0 1106
Fulgent Genetics, Fulgent Genetics 79 41 367 79 39 0 0 605
Invitae 1 1 308 159 18 0 0 487
Myriad Genetics, Inc. 12 212 32 0 0 0 0 256
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 95 91 0 0 0 0 0 186
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 56 35 9 0 0 0 0 100
Mendelics 26 13 9 1 46 0 0 95
OMIM 86 0 3 0 0 1 0 90
ClinGen Hearing Loss Variant Curation Expert Panel 14 18 28 10 7 0 0 77
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 22 20 30 2 2 0 0 76
NIHR Bioresource Rare Diseases, University of Cambridge 8 36 8 1 0 0 0 53
Sharon lab, Hadassah-Hebrew University Medical Center 43 10 0 0 0 0 0 53
Baylor Genetics 22 13 18 1 0 0 0 51
3billion 23 11 6 0 0 0 0 40
Molecular Genetics Laboratory, Institute for Ophthalmic Research 38 0 0 0 0 0 0 38
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 29 8 0 0 0 0 0 37
Centre for Mendelian Genomics, University Medical Centre Ljubljana 10 5 18 1 0 0 0 34
GeneReviews 2 6 0 0 0 0 25 32
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 19 11 0 0 0 0 0 30
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 19 1 9 0 0 0 0 29
Ocular Genomics Institute, Massachusetts Eye and Ear 5 3 18 0 0 0 0 26
Pars Genome Lab 1 0 10 6 7 0 0 24
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 9 6 6 0 0 0 0 21
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 16 3 0 0 0 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 10 5 3 0 0 0 0 18
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 9 0 0 0 0 0 17
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 8 2 5 0 0 0 0 15
DBGen Ocular Genomics 8 5 2 0 0 0 0 15
National Institute on Deafness and Communication Disorders, National Institutes of Health 14 0 0 0 0 0 0 14
Genetics and Molecular Pathology, SA Pathology 7 3 4 0 0 0 0 14
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 6 6 2 0 0 0 0 14
King Laboratory, University of Washington 7 6 0 0 0 0 0 13
WangQJ Lab, Chinese People's Liberation Army General Hospital 2 5 5 0 0 0 0 12
MGZ Medical Genetics Center 5 4 2 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 5 5 0 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 2 5 0 0 0 0 11
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 8 0 0 0 0 10
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 3 3 0 0 0 0 10
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 6 4 0 0 0 0 0 10
GeneID Lab - Advanced Molecular Diagnostics 0 9 0 0 0 0 0 9
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 3 0 0 0 0 0 9
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 7 2 0 0 0 0 0 9
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
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 1 3 0 0 0 0 8
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 6 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 7 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 5 1 0 0 0 0 0 6
Institute of Human Genetics, University of Goettingen 1 3 1 1 0 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 6 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 2 0 0 0 0 6
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 4 2 0 0 0 6
Faculty of Health Sciences, Beirut Arab University 6 0 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 4 0 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 2 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 1 0 0 4 0 0 5
New York Genome Center 0 1 4 0 0 0 0 5
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 4 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 2 0 0 0 0 5
INGEBI, INGEBI / CONICET 4 0 0 0 0 0 0 4
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 2 1 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 2 1 0 0 0 0 0 3
Centre de Biotechnologie de Sfax, Université de Sfax 3 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 1 0 0 0 0 3
Hereditary Research Laboratory, Bethlehem University 3 0 0 0 0 0 0 3
Division of Genetic Medicine, Lausanne University Hospital 3 0 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 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
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 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
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 0 2 0 0 0 0 0 2
The Cell Therapy Center, The University of Jordan 2 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 2 0 0 0 0 0 0 2
Refractive Surgery Department, Bright Eye Hospital 0 2 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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Revvity Omics, Revvity 1 0 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
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 1 0 0 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 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
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 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
Key Research Laboratory of Chronic Disease Prevention and Treatment Mechanism of Integrated Traditional Chinese and Western Medicine, Changchun University of Chinese Medicine 1 0 0 0 0 0 0 1

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