ClinVar Miner

Variants in gene LOXHD1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 association not provided total
270 305 1065 1607 151 1 21 3057

Condition and significance breakdown #

Total conditions: 26
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not provided 245 98 363 1553 143 0 0 2313
Autosomal recessive nonsyndromic hearing loss 77 45 230 539 78 50 0 2 843
Inborn genetic diseases 1 0 391 14 0 0 0 406
not specified 0 0 155 124 61 0 1 324
LOXHD1-related disorder 4 5 5 46 7 0 0 67
Nonsyndromic genetic hearing loss 8 8 1 0 0 0 0 17
Hearing impairment 1 7 7 0 0 0 0 15
Rare genetic deafness 7 4 1 0 0 0 0 12
Monogenic hearing loss 2 2 1 0 0 0 0 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 5 5
Autosomal dominant nonsyndromic hearing loss 0 0 4 0 0 0 0 4
Acute myeloid leukemia 0 0 0 0 0 0 3 3
Deafness 3 0 0 0 0 0 0 3
Lung cancer 0 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 3 3
Uterine carcinosarcoma 0 0 0 0 0 0 2 2
VATER association 0 0 0 0 2 0 0 2
Colon adenocarcinoma 0 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 0 1
Hearing loss, autosomal recessive 1 0 0 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
Stickler syndrome 0 0 0 1 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 0 1
concomitant exotropia 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 80
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 239 83 266 1483 87 0 0 2158
Natera, Inc. 15 117 317 49 36 0 0 534
Ambry Genetics 1 0 391 14 0 0 0 406
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 4 120 90 54 0 1 276
GeneDx 6 7 62 73 81 0 0 229
Illumina Laboratory Services, Illumina 0 2 204 7 5 0 0 218
Fulgent Genetics, Fulgent Genetics 10 64 32 2 0 0 0 108
PreventionGenetics, part of Exact Sciences 4 5 5 52 24 0 0 90
Breakthrough Genomics, Breakthrough Genomics 0 0 16 36 37 0 0 89
CeGaT Center for Human Genetics Tuebingen 4 4 22 46 3 0 0 79
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 8 43 14 3 0 0 76
Eurofins Ntd Llc (ga) 8 1 46 7 9 0 0 71
Counsyl 0 3 18 18 2 0 0 41
Myriad Genetics, Inc. 7 27 1 0 0 0 0 35
Genome-Nilou Lab 0 1 4 1 20 0 0 26
Mayo Clinic Laboratories, Mayo Clinic 0 1 11 2 11 0 0 25
Athena Diagnostics 0 0 5 3 15 0 0 23
Revvity Omics, Revvity 5 6 9 0 0 0 0 20
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 18 18
Institute of Rare Diseases, West China Hospital, Sichuan University 5 13 0 0 0 0 0 18
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 16 0 0 0 0 17
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 7 7 1 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 5 7 0 0 13
3billion 3 3 3 0 0 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 4 0 3 0 0 9
Baylor Genetics 1 1 6 0 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 4 1 0 0 0 7
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 6 0 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 0 2 0 0 0 7
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 3 0 0 0 0 0 7
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 3 1 0 0 0 0 6
Dubai Health Genomic Medicine Center, Dubai Health 2 0 3 0 0 0 0 5
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 2 1 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 1 0 0 0 0 5
King Laboratory, University of Washington 1 4 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 2 0 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 0 2 0 0 4
Center for Statistical Genetics, Columbia University 0 0 4 0 0 0 0 4
Dasa 3 0 1 0 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 2 0 0 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 2 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 1 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 1 1 0 0 0 3
MGZ Medical Genetics Center 1 1 1 0 0 0 0 3
Mendelics 0 0 0 0 3 0 0 3
OMIM 2 0 1 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 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 0 2
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 0 0 0 0 0 0 1
Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences 0 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Hdge Lab, Department of Biotechnology, Mizoram University 0 0 0 0 0 1 0 1
Hereditary Deafness Genetic Testing Group, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 0 1
INGEBI, INGEBI / CONICET 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 0 1
Ophthalmology Lab, The First People's Hospital of Yunnan Provience 0 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.