ClinVar Miner

Variants studied for Autosomal dominant nonsyndromic hearing loss 20

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
10 16 13 0 54 91

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
ACTG1 10 15 11 49 83
ACTG1, LOC130061940 0 1 2 5 8

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 54 54
OMIM 8 0 0 0 8
3billion, Medical Genetics 1 2 3 0 6
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 4 0 4
Mendelics 0 3 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 2
Institute of Rare Diseases, West China Hospital, Sichuan University 0 2 0 0 2
Baylor Genetics 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
King Laboratory, University of Washington 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 1

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