ClinVar Miner

Variants in gene OTOG

Minimum submission review status: Collection method:
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Gene type:
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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
11 17 110 170 108 2 359

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 67 140 86 1 268
not provided 5 8 45 44 70 0 162
Deafness, autosomal recessive 18b 5 3 10 0 0 0 18
Rare genetic deafness 0 11 0 0 0 0 11
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 11 59 107 86 1 264
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
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 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: 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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