ClinVar Miner

Variants in gene OTOG

Minimum submission review status: Collection method:
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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
9 14 101 130 83 2 300

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 63 129 83 1 250
not provided 3 7 39 3 8 0 58
Deafness, autosomal recessive 18b 5 2 10 0 0 0 17
Nonsyndromic hearing loss and deafness 0 9 0 0 0 0 9
Deafness 1 0 0 0 0 0 1
Hearing loss 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 15
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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 9 55 94 83 1 242
GeneDx 3 4 14 39 35 0 95
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 27 7 3 0 37
Athena Diagnostics Inc 0 2 0 2 7 0 11
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 7 0 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 1 1 0 6
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 0 0 2
Center for Statistical Genetics,Baylor College of Medicine 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

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