ClinVar Miner

Variants studied for Autosomal recessive nonsyndromic hearing loss 22

Coded as:
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 total
15 15 20 0 9 54

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
OTOA 13 15 20 9 52
IGSF6, LOC130058625, LOC130058626, LOC130058627, METTL9, OTOA 1 0 0 0 1
IGSF6, METTL9, NPIPB4, OTOA, UQCRC2 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 3 0 2 0 5
Genome-Nilou Lab 0 0 0 5 5
OMIM 4 0 0 0 4
Baylor Genetics 0 2 2 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 4 4
King Laboratory, University of Washington 1 3 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 4 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 3
3billion 1 1 1 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 2
Wangler Lab, Baylor College of Medicine 0 1 1 0 2
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 1 1 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Revvity Omics, Revvity 0 1 0 0 1
Mendelics 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 1
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 1 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 1

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