ClinVar Miner

Variants in gene OTOG

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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
18 25 141 174 108 2 400

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 79 144 86 1 284
not provided 7 9 46 46 70 0 167
Deafness, autosomal recessive 18b 9 6 25 0 3 0 43
Rare genetic deafness 3 10 0 0 0 0 13
Meniere disease 0 1 7 2 0 0 10
Hearing impairment 0 1 8 0 0 0 9
Autosomal recessive nonsyndromic deafness 0 1 0 0 0 0 1
Deafness 1 0 0 0 0 0 1
Hearing loss 0 0 0 0 0 1 1
Nonsyndromic hearing loss and deafness 0 1 0 0 0 0 1
Seizures; Intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 11 70 111 86 1 282
GeneDx 4 4 14 57 49 0 128
Invitae 3 1 1 24 50 0 79
Athena Diagnostics Inc 0 2 3 5 29 0 39
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 27 7 3 0 37
Baylor Genetics 4 0 14 0 0 0 18
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 4 2 0 0 9
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 7 0 0 0 8
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
Fulgent Genetics,Fulgent Genetics 0 1 3 0 0 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
Nilou-Genome Lab 0 0 0 0 3 0 3
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
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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

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