ClinVar Miner

Variants studied for Autosomal recessive nonsyndromic hearing loss 77

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 not provided total
35 138 356 77 50 2 568

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
LOXHD1 35 138 356 77 50 2 568

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 6 12 144 48 36 0 246
Illumina Laboratory Services, Illumina 0 2 203 7 5 0 217
Fulgent Genetics, Fulgent Genetics 10 64 32 2 0 0 108
Counsyl 0 3 18 18 2 0 41
Genome-Nilou Lab 0 1 4 1 20 0 26
Myriad Genetics, Inc. 0 23 1 0 0 0 24
Institute of Rare Diseases, West China Hospital, Sichuan University 5 13 0 0 0 0 18
Revvity Omics, Revvity 5 4 7 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 5 7 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 11 0 0 0 12
Baylor Genetics 1 1 6 0 0 0 8
3billion 3 3 2 0 0 0 8
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 6 0 0 0 7
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 3 0 0 0 0 7
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 3 1 0 0 0 6
King Laboratory, University of Washington 1 4 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 2 0 0 0 5
MGZ Medical Genetics Center 1 1 1 0 0 0 3
Mendelics 0 0 0 0 3 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 2 0 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 1 1 0 0 0 2
DASA 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 0 0 0 0 0 1
Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences 0 1 0 0 0 0 1

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