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
13 19 126 174 108 2 376

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 77 144 86 1 282
not provided 5 8 45 44 70 0 162
Deafness, autosomal recessive 18b 5 4 11 0 0 0 20
Rare genetic deafness 3 9 0 0 0 0 12
Ménière's disease 0 1 7 2 0 0 10
Hearing impairment 0 0 2 0 0 0 2
Deafness 1 0 0 0 0 0 1
Hearing loss 0 0 0 0 0 1 1
Seizures; Intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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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 9 69 111 86 1 279
GeneDx 4 4 14 57 49 0 128
Invitae 1 0 0 24 50 0 75
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 27 7 3 0 37
Athena Diagnostics Inc 0 2 3 5 24 0 34
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
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 7 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 4 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
New York Genome Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1

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