ClinVar Miner

Variants in gene OTOF

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 association not provided total
104 42 307 200 90 7 1 599

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Deafness, autosomal recessive 9 88 10 177 30 29 7 0 318
not specified 1 0 101 146 73 0 1 292
not provided 6 7 64 57 57 0 0 176
Rare genetic deafness 13 15 0 0 0 0 0 28
none provided 0 0 1 2 10 0 0 13
Autosomal recessive nonsyndromic deafness 1 10 0 0 0 0 0 11
Hearing impairment 2 2 6 0 0 0 0 10
Auditory neuropathy, autosomal recessive, 1 6 0 0 0 0 0 0 6
Nonsyndromic Hearing Loss, Recessive 0 0 3 1 0 0 0 4
Deafness 2 0 0 0 0 0 0 2
Nonsyndromic hearing loss and deafness 0 1 0 0 0 0 0 1
Pendred syndrome 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 13 16 94 106 68 0 1 298
Illumina Clinical Services Laboratory,Illumina 1 1 170 29 15 0 0 216
GeneDx 6 5 9 53 35 0 0 108
GeneReviews 65 0 0 0 23 7 0 95
Invitae 1 1 2 35 33 0 0 72
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 37 2 12 0 0 51
PreventionGenetics, PreventionGenetics 0 0 0 10 24 0 0 34
Athena Diagnostics Inc 0 0 6 2 24 0 0 32
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 12 5 10 0 0 28
OMIM 14 0 0 0 0 0 0 14
University of Washington Center for Mendelian Genomics, University of Washington 0 10 0 0 0 0 0 10
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 1 1 7 0 0 0 0 9
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 7 0 0 0 0 0 0 7
Baylor Genetics 1 0 5 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 2 0 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 6 0 0 0 0 6
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 2 0 0 0 0 5
Mendelics 1 0 0 2 1 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 2 0 0 0 4
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 1 1 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 3 0 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 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 1 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 2 0 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 0 2
Center for Statistical Genetics, Columbia University 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 0 1
University of Arizona Genetics Core,University of Arizona 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 1
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research 1 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.