ClinVar Miner

Variants studied for autosomal recessive nonsyndromic deafness 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 total
76 29 228 25 13 41 8 380

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other total
SLC26A4 72 28 109 8 4 41 8 232
KCNJ10 2 1 78 13 3 0 0 96
FOXI1 2 0 41 4 6 0 0 52

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other total
Illumina Clinical Services Laboratory,Illumina 0 0 219 24 13 0 0 256
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 4 1 0 0 0 41 8 54
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 29
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 21 1 0 0 0 0 0 22
Fulgent Genetics,Fulgent Genetics 10 3 6 1 0 0 0 20
OMIM 17 0 0 0 0 0 0 17
Precision Medicine Center,Zhengzhou University 11 4 0 0 0 0 0 15
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 7 0 0 0 0 0 0 7
Baylor Genetics 3 0 2 0 0 0 0 5
Laboratory of Prof. Karen Avraham,Tel Aviv University 4 0 0 0 0 0 0 4
GeneReviews 3 0 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 1 0 0 0 0 0 3
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 1 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 0 0 0 0 0 0 2
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 1 1 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Medical Genetics Lab, Xi'an Fourth Hospital 0 1 0 0 0 0 0 1

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