ClinVar Miner

Variants in gene LOXHD1

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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
258 224 774 1585 150 3 2690

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 243 95 341 1529 143 0 2268
Autosomal recessive nonsyndromic hearing loss 77 35 138 356 77 50 2 568
not specified 0 0 147 121 61 1 314
Inborn genetic diseases 1 0 256 10 0 0 267
LOXHD1-related disorder 4 5 5 46 7 0 67
Hearing impairment 0 7 7 0 0 0 14
Nonsyndromic genetic hearing loss 4 7 1 0 0 0 12
Rare genetic deafness 7 4 1 0 0 0 12
Hearing loss, autosomal recessive 1 0 4 1 0 0 6
Autosomal dominant nonsyndromic hearing loss 0 0 4 0 0 0 4
Deafness 3 0 0 0 0 0 3
Stickler syndrome 0 0 0 1 0 0 1
Variant of unknown significance 0 0 1 0 0 0 1
concomitant exotropia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 237 82 258 1464 87 0 2128
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 4 120 90 54 1 276
Ambry Genetics 1 0 256 10 0 0 267
Natera, Inc. 6 12 144 48 36 0 246
Illumina Laboratory Services, Illumina 0 2 208 8 5 0 223
GeneDx 5 6 52 73 81 0 217
Fulgent Genetics, Fulgent Genetics 10 64 32 2 0 0 108
PreventionGenetics, part of Exact Sciences 4 5 5 52 24 0 90
Breakthrough Genomics, Breakthrough Genomics 0 0 16 36 37 0 89
Eurofins Ntd Llc (ga) 8 1 46 7 9 0 71
CeGaT Center for Human Genetics Tuebingen 4 3 18 35 5 0 65
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 7 32 12 3 0 58
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
Athena Diagnostics 0 0 5 3 15 0 23
Institute of Rare Diseases, West China Hospital, Sichuan University 5 13 0 0 0 0 18
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 16 0 0 0 17
Revvity Omics, Revvity 5 4 7 0 0 0 16
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 7 7 1 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 5 7 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 4 0 3 0 9
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 4 1 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 1 5 0 0 0 6
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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 3 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 0 2 0 4
Center for Statistical Genetics, Columbia University 0 0 4 0 0 0 4
OMIM 2 0 1 0 0 0 3
MGZ Medical Genetics Center 1 1 1 0 0 0 3
Mendelics 0 0 0 0 3 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 1 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 0 0 0 3
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
INGEBI, INGEBI / CONICET 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 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
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 1
Ophthalmology Lab, The First People's Hospital of Yunnan Provience 0 1 0 0 0 0 1

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