ClinVar Miner

Variants studied for Autosomal recessive nonsyndromic hearing loss 89

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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
6 3 4 1 1 15

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
KARS1 5 2 3 1 1 12
KARS1, LOC126862402 1 1 1 0 0 3

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Mendelics 1 2 0 0 1 4
OMIM 2 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 2
3billion, Medical Genetics 0 0 2 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 0 2 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 2
Clinical and Biomedical Sciences, University of Exeter 0 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
Genetics Department, Hospital Ramon y Cajal-IRYCIS 1 0 0 0 0 1

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