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
100 24 201 151 77 7 1 463

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not specified 0 0 79 130 73 0 1 253
Deafness, autosomal recessive 9 87 8 18 0 23 7 0 137
Nonsyndromic Hearing Loss, Recessive 0 0 72 21 1 0 0 94
not provided 5 4 51 4 5 0 0 68
Nonsyndromic hearing loss and deafness 12 14 0 0 0 0 0 26
Auditory neuropathy, autosomal recessive, 1 6 0 0 0 0 0 0 6
Deafness 2 0 0 0 0 0 0 2
Hearing impairment 1 1 0 0 0 0 0 2
Deafness, autosomal recessive 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 12 14 77 88 68 0 1 260
Illumina Clinical Services Laboratory,Illumina 1 1 80 21 1 0 0 104
GeneReviews 65 0 0 0 23 7 0 95
GeneDx 5 3 9 35 28 0 0 80
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 37 2 12 0 0 51
PreventionGenetics 0 0 0 10 24 0 0 34
OMIM 14 0 0 0 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 7 3 1 0 0 11
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 7 0 0 0 0 0 0 7
Athena Diagnostics Inc 0 0 0 0 4 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 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
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 0 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
Division of Genomic Diagnostics,The 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,Baylor College of Medicine 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1

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