ClinVar Miner

Variants studied for Autosomal recessive nonsyndromic hearing loss 84A

Coded as:
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 not provided total
13 13 13 1 11 2 50

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTPRQ 13 13 13 1 11 2 50

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 0 0 0 11 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 4 0 0 0 7
Institute of Rare Diseases, West China Hospital, Sichuan University 4 3 0 0 0 0 7
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 5 0 0 0 6
Institute of Human Genetics, University of Wuerzburg 3 1 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Mendelics 0 0 1 0 1 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Daryl Scott Lab, Baylor College of Medicine 0 0 1 1 0 0 2
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 1 1 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Hereditary Hearing Loss Research Unit, University of Madras 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1

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