ClinVar Miner

Variants in gene OTOF

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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
249 171 676 1276 208 107 2267

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 160 63 363 1241 202 0 1850
Autosomal recessive nonsyndromic hearing loss 9 90 60 200 28 23 86 432
not specified 1 0 126 120 69 1 305
Inborn genetic diseases 1 0 162 3 0 0 166
OTOF-related disorder 5 3 11 33 9 0 61
Nonsyndromic genetic hearing loss 12 14 2 2 2 0 32
Rare genetic deafness 12 15 0 0 0 0 27
Auditory neuropathy 7 16 0 0 0 0 23
Bilateral sensorineural hearing impairment 11 7 2 0 1 0 21
Auditory neuropathy spectrum disorder 11 3 0 0 0 0 14
Hearing loss, autosomal recessive 1 12 0 0 0 0 13
Hearing impairment 1 3 6 0 0 0 10
Auditory neuropathy, autosomal recessive, 1 6 0 0 0 0 0 6
Malignant tumor of esophagus 0 0 0 0 0 4 4
Tricho-oculo-dermo-vertebral syndrome 1 3 0 0 0 0 4
Cervical cancer 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Autosomal recessive nonsyndromic hearing loss 3 0 2 0 0 0 0 2
Childhood onset hearing loss 0 0 2 0 0 0 2
Deafness 2 0 0 0 0 0 2
Ear malformation 1 1 0 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Autosomal recessive OTOF-related disorders 0 1 0 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Monogenic hearing loss 1 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Pendred syndrome 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 154 47 118 1121 121 0 1561
GeneDx 21 15 223 114 128 0 501
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 16 85 99 65 1 278
Illumina Laboratory Services, Illumina 0 1 150 27 15 0 193
Ambry Genetics 1 0 162 3 0 0 166
Breakthrough Genomics, Breakthrough Genomics 0 0 9 51 57 0 117
GeneReviews 6 0 0 0 1 86 93
PreventionGenetics, part of Exact Sciences 5 3 11 42 32 0 93
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 13 39 11 12 0 86
CeGaT Center for Human Genetics Tuebingen 0 0 23 35 7 0 65
Eurofins Ntd Llc (ga) 0 0 34 1 12 0 47
Institute of Rare Diseases, West China Hospital, Sichuan University 21 18 0 0 0 0 39
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 13 7 13 0 34
Athena Diagnostics 0 0 6 1 23 0 30
Fulgent Genetics, Fulgent Genetics 5 4 15 2 3 0 29
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 1 24 0 29
WangQJ Lab, Chinese People's Liberation Army General Hospital 9 18 3 0 0 0 29
Department of Pathology and Laboratory Medicine, Sinai Health System 2 5 17 0 0 0 24
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 21 21
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 11 7 2 0 1 0 21
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 9 7 0 0 0 0 16
Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University 11 3 0 0 0 0 14
OMIM 13 0 0 0 0 0 13
Revvity Omics, Revvity 4 2 7 0 0 0 13
ClinGen Hearing Loss Variant Curation Expert Panel 2 4 2 2 2 0 12
University of Washington Center for Mendelian Genomics, University of Washington 0 10 0 0 0 0 10
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 2 7 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 6 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 5 0 0 0 8
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 7 0 0 0 0 0 7
Baylor Genetics 1 0 5 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 1 0 0 0 6
King Laboratory, University of Washington 2 4 0 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 1 0 1 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 5 0 5
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 0 2 0 0 0 5
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 2 3 0 0 0 0 5
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 1 1 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 2 0 0 4
Laboratory of Molecular, Cellular and Translation Genetics in Otolaryngology/ Lim32-hcfmusp, University of Sao Paulo School of Medicine Clinics Hospital 4 0 0 0 0 0 4
Laboratory of Prof. Karen Avraham, Tel Aviv University 3 0 1 0 0 0 4
3billion 1 1 1 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 3 0 0 0 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 2 1 0 0 0 0 3
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Mendelics 1 0 0 1 1 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Center for Statistical Genetics, Columbia University 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 0 2 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 2 0 0 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 2 0 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 1 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Hereditary Deafness Genetic Testing Group, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
Nanfang Hospital, Southern Medical University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
University of Arizona Genetics Core, University of Arizona 1 0 0 0 0 0 1
Wonkam Laboratory, Johns Hopkins University 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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