ClinVar Miner

Variants studied for Autosomal recessive nonsyndromic hearing loss 21

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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
14 3 141 8 11 174

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TBCEL-TECTA, TECTA 13 1 128 7 9 156
LOC126861365, TBCEL-TECTA, TECTA 1 2 13 1 2 18

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 130 8 8 146
Genome-Nilou Lab 0 0 0 0 9 9
3billion 1 0 4 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 4
King Laboratory, University of Washington 3 0 0 0 0 3
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 0 3 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 1 0 0 2
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 1 1 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 1 0 0 0 0 1

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