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
102 26 291 196 90 7 1 573

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Deafness, autosomal recessive 9 87 8 174 30 29 7 0 312
not specified 1 0 94 143 73 0 1 281
not provided 6 6 57 56 57 0 0 168
Rare genetic deafness 13 13 0 0 0 0 0 26
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
Hearing impairment 1 1 0 0 0 0 0 2
Deafness, autosomal recessive 1 0 0 0 0 0 0 1
Nonsyndromic hearing loss and deafness 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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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 13 14 87 102 68 0 1 285
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 0 0 1 35 33 0 0 69
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 5 1 23 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 11 5 3 0 0 20
OMIM 14 0 0 0 0 0 0 14
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 7 0 0 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 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
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, 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
Baylor Genetics 0 0 1 0 0 0 0 1
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
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
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 0 0 1

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