ClinVar Miner

Variants in gene OTOG

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 not provided total
72 74 600 569 258 3 1404

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 53 34 535 496 252 0 1266
not specified 0 0 79 126 87 1 286
OTOG-related disorder 2 6 14 69 29 0 120
Autosomal recessive nonsyndromic hearing loss 18B 26 19 54 4 11 1 112
Rare genetic deafness 4 19 0 0 0 0 23
Meniere disease 0 1 7 2 0 0 10
Hearing impairment 1 1 6 0 0 0 8
Hearing loss, autosomal recessive 0 2 1 0 0 0 3
Deafness 1 0 0 0 0 0 1
Hearing loss 0 0 0 0 0 1 1
Nonsyndromic genetic hearing loss 0 1 0 0 0 0 1
Seizure; Intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 44 13 271 340 124 0 792
GeneDx 14 14 314 177 198 0 717
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 20 70 113 86 1 294
Breakthrough Genomics, Breakthrough Genomics 0 0 10 43 105 0 158
PreventionGenetics, part of Exact Sciences 2 6 14 69 29 0 120
CeGaT Center for Human Genetics Tuebingen 5 2 27 59 5 0 98
Athena Diagnostics 0 2 5 5 29 0 41
Eurofins Ntd Llc (ga) 0 0 27 7 3 0 37
Revvity Omics, Revvity 6 4 9 0 0 0 19
Fulgent Genetics, Fulgent Genetics 1 1 11 4 1 0 18
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 3 0 13 0 17
Baylor Genetics 0 0 16 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 13 0 14
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 0 1 7 2 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 10
Mayo Clinic Laboratories, Mayo Clinic 0 2 6 0 0 0 8
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 7 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 3 0 0 0 7
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 6 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 4 1 1 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 4 0 0 0 6
King Laboratory, University of Washington 3 2 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 4 0 0 0 5
3billion 2 2 1 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 3 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 2 1 0 4
OMIM 3 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 0 0 0 3
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 2 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 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 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
The Genetic Institute, Ha'emek Medical center, Ha'emek Medical Center 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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