ClinVar Miner

Variants studied for autosomal recessive nonsyndromic hearing loss 4

Included ClinVar conditions (4):
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 affects other not provided total
181 147 294 54 16 40 8 1 622

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
SLC26A4 161 139 151 27 7 39 8 1 421
KCNJ10 4 3 96 18 3 0 0 0 123
FOXI1 2 0 44 6 6 0 0 0 57
LOC123956210, SLC26A4 14 5 3 3 0 1 0 0 21

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Illumina Laboratory Services, Illumina 0 0 219 24 13 0 0 0 256
Baylor Genetics 105 82 2 0 0 0 0 0 189
Fulgent Genetics, Fulgent Genetics 26 13 52 14 3 0 0 0 108
Genome-Nilou Lab 23 18 43 18 1 0 0 0 103
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 4 1 0 0 0 40 8 0 53
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 14 15 0 0 0 0 0 0 29
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 21 5 1 0 0 0 0 0 27
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 21 1 0 0 0 0 0 0 22
King Laboratory, University of Washington 10 9 0 0 0 0 0 0 19
OMIM 17 0 0 0 0 0 0 0 17
3billion 10 5 1 0 0 0 0 0 16
Precision Medicine Center, Zhengzhou University 11 4 0 0 0 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 1 1 0 0 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 2 2 0 0 0 0 0 8
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 5 2 0 0 0 0 0 0 7
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 2 2 2 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 0 0 0 5
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 0 0 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 1 0 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 0 3
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 0 2 1 0 0 0 0 0 3
UAEU Genomics Laboratory, United Arab Emirates University 3 0 0 0 0 0 0 0 3
MGZ Medical Genetics Center 2 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 1 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 1 1 0 0 0 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 2 0 0 0 0 0 0 0 2
Institute of Otorhinolaryngology, The First affiliated hospital, Sun Yat-sen University 1 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 0 0 0 1

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