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 total
57 22 11 1 0 82

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 total
SLC26A4 53 21 5 1 72
KCNJ10 2 1 6 0 8
FOXI1 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 14 15 0 0 29
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 21 1 0 0 22
Fulgent Genetics,Fulgent Genetics 10 3 6 1 20
OMIM 17 0 0 0 17
GeneReviews 3 0 0 0 3
Laboratory of Prof. Karen Avraham,Tel Aviv University 3 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 1 0 0 3
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 1 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 1
Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 1

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