ClinVar Miner

Variants in gene WFS1

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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
73 42 333 250 135 2 674

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 23 31 148 111 86 0 363
not specified 0 0 93 153 78 0 279
WFS1-Related Spectrum Disorders 4 1 129 34 48 0 216
Autosomal dominant nonsyndromic deafness 6 8 0 105 43 58 0 211
Monogenic diabetes 0 0 30 7 14 0 51
Wolfram syndrome 1 27 5 4 1 5 0 41
none provided 0 0 1 5 19 0 25
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic deafness 6; Type 2 diabetes mellitus; Wolfram-like syndrome, autosomal dominant 0 0 15 0 0 0 15
Rare genetic deafness 8 2 0 0 0 0 10
Diabetes mellitus 7 1 1 0 0 0 9
Type 2 diabetes mellitus 4 0 4 0 0 0 8
Wolfram-like syndrome, autosomal dominant 6 0 2 0 0 0 8
Nonsyndromic Hearing Loss, Dominant 0 0 7 0 0 0 7
Wolfram syndrome 3 4 0 0 0 0 7
Hearing impairment 1 3 2 0 0 0 6
Autistic behavior 0 0 2 0 0 0 2
Cataract 41 1 0 1 0 0 0 2
Inborn genetic diseases 1 1 0 0 0 0 2
Wolfram syndrome 1; Autosomal dominant nonsyndromic deafness 6; Wolfram-like syndrome, autosomal dominant 0 0 0 0 0 2 2
Autosomal dominant nonsyndromic deafness 6; Wolfram-like syndrome, autosomal dominant 0 0 1 0 0 0 1
DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss 1 0 0 0 0 0 1
Dandy-Walker syndrome; Laryngomalacia; Sensorineural hearing loss; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Nyctalopia; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Duane anomaly; Small hand; Cleft palate 1 0 0 0 0 0 1
Diabetes mellitus, noninsulin-dependent, association with 0 0 0 0 1 0 1
Wolfram syndrome 1; Rare genetic deafness 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 9 20 50 98 79 0 256
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 12 2 82 62 66 0 224
Illumina Clinical Services Laboratory,Illumina 4 0 129 55 58 0 215
Invitae 9 0 30 80 54 0 173
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 3 47 10 33 0 95
CeGaT Praxis fuer Humangenetik Tuebingen 6 4 33 18 0 0 61
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 30 7 14 0 51
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 9 7 29 0 45
PreventionGenetics, PreventionGenetics 0 0 0 11 28 0 39
Genetic Services Laboratory, University of Chicago 3 4 6 16 9 0 38
OMIM 32 0 0 0 0 0 32
Athena Diagnostics Inc 2 0 3 5 7 0 17
Fulgent Genetics,Fulgent Genetics 0 0 15 0 0 0 15
Mendelics 2 1 1 1 5 0 10
Constantin Polychronakos Laboratory,The Research Institute of the McGill University Health Centre 7 1 1 0 0 0 9
Gharavi Laboratory,Columbia University 0 2 6 0 0 0 8
Baylor Genetics 1 1 4 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 2 1 2 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 1 3 1 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Ambry Genetics 1 1 0 0 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
GeneReviews 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 0 1
New York Genome Center 0 1 1 0 0 0 1

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