ClinVar Miner

Variants studied for autosomal recessive nonsyndromic hearing loss 89

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
5 3 7 2 1 17

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 4 2 5 2 1 14
KARS1, LOC126862402 1 1 2 0 0 3

Submitter and significance breakdown #

Total submitters: 10
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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
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 2
3billion 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
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 0 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1

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