ClinVar Miner

Variants studied for autosomal recessive nonsyndromic hearing loss 9

Included ClinVar conditions (2):
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 not provided total
69 37 207 30 24 88 393

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OTOF 65 31 194 28 23 86 371
LOC112840921, OTOF 1 6 10 2 1 1 16
LOC129933334, OTOF 1 0 2 0 0 1 3
IGSF6, METTL9, OTOA 1 0 0 0 0 0 1
LOC129933336, OTOF 0 0 1 0 0 0 1
RAI1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 167 28 15 0 212
GeneReviews 6 0 0 0 1 88 95
Fulgent Genetics, Fulgent Genetics 5 4 16 2 4 0 31
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 9 8 0 0 0 0 17
OMIM 14 0 0 0 0 0 14
WangQJ Lab, Chinese People's Liberation Army General Hospital 2 4 5 0 0 0 11
Revvity Omics, Revvity 3 1 6 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 6 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
Baylor Genetics 1 1 5 0 0 0 7
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 7 0 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 4 0 0 0 6
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 2 4 0 0 0 0 6
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 3 1 1 0 0 0 5
Mendelics 1 0 0 2 1 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 2 0 0 0 4
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 4 0 0 0 0 0 4
King Laboratory, University of Washington 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 3 0 0 0 3
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 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 3
3billion 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 3
Molecular Genetics Laboratory; Baylor College of Medicine 0 2 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 2
ClinGen Hearing Loss Variant Curation Expert Panel 0 2 0 0 0 0 2
Nanfang Hospital, Southern Medical University 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
University of Arizona Genetics Core, University of Arizona 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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