ClinVar Miner

Variants studied for Autosomal recessive nonsyndromic hearing loss 21

Coded as:
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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
23 6 141 8 11 184

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 21 3 128 7 9 165
LOC126861365, TBCEL-TECTA, TECTA 2 3 13 1 2 19

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 129 8 8 145
Genome-Nilou Lab 0 0 0 0 9 9
Institute of Rare Diseases, West China Hospital, Sichuan University 7 1 0 0 0 8
3billion, Medical Genetics 1 0 4 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 4
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 2 0 0 0 4
Department of Human Genetics, Hannover Medical School 0 0 4 0 0 4
King Laboratory, University of Washington 3 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 0 0 0 0 3
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
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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