ClinVar Miner

Variants in gene WFS1

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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 likely risk allele uncertain risk allele not provided total
190 173 1141 678 323 27 63 5 1991

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
not provided 137 81 877 602 158 0 0 0 1669
Wolfram syndrome 1 68 46 67 59 234 27 63 0 543
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 20 43 329 69 3 0 0 0 462
not specified 0 0 106 130 83 0 0 0 279
Autosomal dominant nonsyndromic hearing loss 6 14 6 109 40 58 0 0 1 222
WFS1-Related Spectrum Disorders 5 2 116 34 48 0 0 0 205
WFS1-related disorder 8 12 62 54 4 0 0 0 140
Inborn genetic diseases 4 3 104 12 0 0 0 0 123
Monogenic diabetes 0 0 30 7 14 0 0 0 51
Optic atrophy 5 10 20 0 0 0 0 0 35
Wolfram-like syndrome 7 7 8 0 0 0 0 0 20
Type 2 diabetes mellitus 6 0 12 0 0 0 0 0 18
Diabetes mellitus 7 1 1 0 3 0 0 0 12
Retinal dystrophy 2 2 8 0 0 0 0 0 12
Rare genetic deafness 8 2 0 0 0 0 0 0 10
Wolfram syndrome 3 5 0 0 2 0 0 0 10
Wolfram syndrome 1; Wolfram-like syndrome 2 2 4 0 0 0 0 0 8
Nonsyndromic Hearing Loss, Dominant 0 0 7 0 0 0 0 0 7
Wolfram syndrome 1; Type 2 diabetes mellitus 0 0 7 0 0 0 0 0 7
Cataract 41 2 2 2 0 0 0 0 0 6
Hearing impairment 0 4 2 0 0 0 0 0 6
Spastic ataxia 0 3 2 0 0 0 0 0 5
Autosomal dominant nonsyndromic hearing loss 1 3 0 0 0 0 0 0 4
Meniere disease 0 0 4 0 0 0 0 0 4
See cases 1 3 0 0 0 0 0 0 4
Auditory neuropathy 0 3 0 0 0 0 0 0 3
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Wolfram-like syndrome 0 0 1 0 0 0 0 2 3
Autistic behavior 0 0 2 0 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 0 0 2 2
Nonsyndromic genetic hearing loss 0 1 0 0 1 0 0 0 2
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6 1 1 0 0 0 0 0 0 2
Childhood onset hearing loss 0 0 1 0 0 0 0 0 1
Congenital bilateral perisylvian syndrome 0 1 0 0 0 0 0 0 1
Developmental cataract 0 0 1 0 0 0 0 0 1
Diabetes 0 0 1 0 0 0 0 0 1
Diabetes mellitus, noninsulin-dependent, association with 0 0 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 1 0 0 0 0 0 0 1
Sensorineural hearing loss disorder 0 0 0 0 1 0 0 0 1
WFS1-spectrum disorder 0 1 0 0 0 0 0 0 1
Wolfram syndrome 1; Rare genetic deafness 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 109
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 126 24 665 506 84 0 0 0 1405
GeneDx 24 34 343 152 126 0 0 0 679
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 14 17 48 56 234 27 63 0 459
Fulgent Genetics, Fulgent Genetics 19 39 321 69 3 0 0 0 451
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 3 83 62 66 0 0 0 226
Illumina Laboratory Services, Illumina 5 0 117 52 58 0 0 0 204
PreventionGenetics, part of Exact Sciences 7 12 62 64 32 0 0 0 177
CeGaT Center for Human Genetics Tuebingen 11 11 57 60 6 0 0 0 145
Ambry Genetics 4 3 104 12 0 0 0 0 123
Eurofins Ntd Llc (ga) 2 3 47 10 33 0 0 0 95
Breakthrough Genomics, Breakthrough Genomics 0 0 7 28 59 0 0 0 94
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 20 19 34 0 0 0 76
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 4 8 37 16 0 0 0 66
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 2 9 48 2 0 0 0 62
Genetic Services Laboratory, University of Chicago 3 6 10 22 13 0 0 0 54
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 30 7 14 0 0 0 51
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 7 10 27 0 0 0 0 0 44
Clinical Genetics, Academic Medical Center 1 2 7 13 14 0 0 0 37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 1 18 5 0 0 0 0 34
OMIM 32 0 0 0 0 0 0 0 32
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 4 3 4 16 0 0 0 30
Department of Pathology and Laboratory Medicine, Sinai Health System 2 4 14 0 2 0 0 0 22
New York Genome Center 1 2 19 0 0 0 0 0 20
Revvity Omics, Revvity 2 2 14 1 0 0 0 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 7 1 0 0 0 0 18
Athena Diagnostics 2 0 3 5 7 0 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 1 3 12 0 0 0 0 0 16
Laboratory of Prof. Karen Avraham, Tel Aviv University 9 5 2 0 0 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 4 2 9 0 0 0 15
Mendelics 2 1 2 1 6 0 0 0 12
Baylor Genetics 2 2 6 0 0 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 6 0 0 0 0 0 10
MGZ Medical Genetics Center 2 4 3 0 0 0 0 0 9
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre 7 1 1 0 0 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 5 0 0 0 0 0 8
Gharavi Laboratory, Columbia University 0 2 6 0 0 0 0 0 8
Molecular Endocrinology Laboratory, Christian Medical College 5 2 1 0 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 4 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 0 0 0 0 0 7
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 5 2 0 0 0 0 0 7
3billion 2 3 2 0 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 3 0 0 0 0 0 0 7
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 5 3 0 0 0 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 2 1 2 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 5 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 0 5 0 0 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 3 1 0 0 0 5
Center for Statistical Genetics, Columbia University 1 4 0 0 0 0 0 0 5
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 4 1 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 4 4
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 3 0 0 0 0 0 0 4
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 4 0 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 2 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 2 0 0 0 0 0 0 2
Breda Genetics srl 1 1 0 0 0 0 0 0 2
INGEBI, INGEBI / CONICET 0 1 0 0 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 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 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 0 1 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 0 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 1 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 0 1
H3Africa Consortium 0 0 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 0 0 0 0 1
Discovery DNA Inc 0 1 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 0 0 1
Research and Development Department, MaiDa Gene Technology 0 0 1 0 0 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 0 1 0 0 0 0 0 0 1

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