ClinVar Miner

Variants in gene WFS1

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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 not provided total
200 214 1234 719 325 28 2135

Condition and significance breakdown #

Total conditions: 57
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 145 91 946 641 159 0 1787
Wolfram syndrome 1 76 81 134 59 234 0 562
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 20 43 329 69 3 0 462
not specified 0 0 120 141 84 0 303
Autosomal dominant nonsyndromic hearing loss 6 15 7 111 40 58 1 226
WFS1-Related Spectrum Disorders 5 2 109 34 48 0 198
Inborn genetic diseases 5 4 161 15 0 0 185
WFS1-related disorder 8 12 63 54 4 0 141
Monogenic diabetes 0 0 30 7 14 0 51
Optic atrophy 5 10 20 0 0 0 35
Wolfram-like syndrome 8 8 9 0 0 0 23
Type 2 diabetes mellitus 6 0 13 0 0 0 19
Diabetes mellitus 7 1 1 0 3 0 12
Retinal dystrophy 2 2 8 0 0 0 12
Rare genetic deafness 8 2 0 0 0 0 10
Wolfram syndrome 3 5 0 0 2 0 10
Monogenic hearing loss 4 5 0 0 0 0 9
Ovarian serous cystadenocarcinoma 0 0 0 0 0 8 8
Wolfram syndrome 1; Wolfram-like syndrome 2 2 4 0 0 0 8
Wolfram syndrome 1; Type 2 diabetes mellitus 0 0 7 0 0 0 7
Cataract 41 2 2 2 0 0 0 6
Hearing impairment 0 4 2 0 0 0 6
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Wolfram-like syndrome 0 0 2 0 0 4 6
Hepatocellular carcinoma 0 0 0 0 0 5 5
Optic neuropathy 1 3 1 0 0 0 5
Spastic ataxia 0 3 2 0 0 0 5
Autosomal dominant nonsyndromic hearing loss 1 3 0 0 0 0 4
Lung cancer 0 0 0 0 0 4 4
Meniere disease 0 0 4 0 0 0 4
See cases 1 3 0 0 0 0 4
Auditory neuropathy 0 3 0 0 0 0 3
Hereditary ataxia 0 0 3 0 0 0 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Autistic behavior 0 0 2 0 0 0 2
Autosomal dominant and autosomal recessive WFS1-related disorders 1 1 0 0 0 0 2
Autosomal dominant nonsyndromic hearing loss 6; Wolfram-like syndrome; Wolfram syndrome; WFS1-Related Spectrum Disorders 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 2 2
Nonsyndromic genetic hearing loss 0 1 0 0 1 0 2
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6 1 1 0 0 0 0 2
Childhood onset hearing loss 0 0 1 0 0 0 1
Congenital bilateral perisylvian syndrome 0 1 0 0 0 0 1
Developmental cataract 0 0 1 0 0 0 1
Diabetes 0 0 1 0 0 0 1
Diabetes mellitus, noninsulin-dependent, association with 0 0 0 0 1 0 1
Early-onset non-syndromic cataract 1 0 0 0 0 0 1
Lymphedema 0 0 1 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Myopia, high, with cataract and vitreoretinal degeneration 0 1 0 0 0 0 1
Neurodevelopmental abnormality 0 1 0 0 0 0 1
Sensorineural hearing loss disorder 0 0 0 0 1 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
WFS1 Spectrum Disorder 0 1 0 0 0 0 1
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 0 0 1 0 0 0 1
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Wolfram-like syndrome; WFS1-Related Spectrum Disorders 0 0 0 0 0 1 1
Wolfram syndrome 1; Rare genetic deafness 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 127
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 133 28 726 544 85 0 1516
GeneDx 27 37 380 152 126 0 722
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 14 44 111 56 234 0 459
Fulgent Genetics, Fulgent Genetics 19 39 321 69 3 0 451
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 3 83 62 66 0 226
Illumina Laboratory Services, Illumina 5 0 110 52 58 0 197
Ambry Genetics 5 4 161 15 0 0 185
PreventionGenetics, part of Exact Sciences 7 12 62 64 32 0 177
CeGaT Center for Human Genetics Tuebingen 12 12 57 68 6 0 155
Eurofins Ntd Llc (ga) 2 3 47 10 33 0 95
Breakthrough Genomics, Breakthrough Genomics 0 0 7 28 59 0 94
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 23 23 38 0 87
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 1 36 22 0 0 72
Mayo Clinic Laboratories, Mayo Clinic 1 3 18 12 36 0 70
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 4 8 37 16 0 66
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 2 9 48 2 0 62
Genetic Services Laboratory, University of Chicago 3 6 10 22 13 0 54
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 30 7 14 0 51
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 7 10 27 0 0 0 44
Clinical Genetics, Academic Medical Center 1 2 7 13 14 0 37
OMIM 32 0 0 0 0 0 32
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 4 3 4 16 0 30
Revvity Omics, Revvity 3 4 15 1 0 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 2 4 14 0 2 0 22
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 3 7 1 0 0 22
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 20 20
New York Genome Center 1 2 19 0 0 0 20
3billion 5 6 7 0 0 0 18
Athena Diagnostics 2 0 3 5 7 0 17
Laboratory of Prof. Karen Avraham, Tel Aviv University 10 5 2 0 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 4 2 9 0 15
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 4 8 1 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 7 0 0 0 12
Mendelics 2 1 2 1 6 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 6 0 0 0 11
Baylor Genetics 2 2 6 0 0 0 10
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre 7 1 1 0 0 0 9
MGZ Medical Genetics Center 2 4 3 0 0 0 9
Gharavi Laboratory, Columbia University 0 2 6 0 0 0 8
Molecular Endocrinology Laboratory, Christian Medical College 5 2 1 0 0 0 8
Variantyx, Inc. 4 4 0 0 0 0 8
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 5 3 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 4 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 3 0 0 0 0 7
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 5 2 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 5 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 2 1 2 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 0 5 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 3 1 0 5
Center for Statistical Genetics, Columbia University 1 4 0 0 0 0 5
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 4 1 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 4 0 0 0 4
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 4 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 3 0 0 0 4
Dasa 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Medical and Scientific Branch, Hong Kong Genome Institute 2 2 0 0 0 0 4
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 3 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 1 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 2 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 1 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Breda Genetics srl, Breda Genetics srl 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 1 1 0 0 2
INGEBI, INGEBI / CONICET 0 1 0 0 1 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 2
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital 1 0 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 1 0 0 0 1
Discovery DNA Inc 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetics Department, University Hospital of Toulouse 1 0 0 0 0 0 1
H3Africa Consortium 0 0 0 0 1 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Research and Development Department, MaiDa Gene Technology 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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