ClinVar Miner

Variants in gene WWOX

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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 association not provided total
59 24 235 118 83 1 1 490

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 25 6 193 54 20 0 0 298
not provided 18 7 43 31 64 0 0 157
not specified 0 0 8 54 20 0 0 79
Epileptic encephalopathy, early infantile, 28 15 7 12 0 0 0 0 33
Malignant tumor of esophagus; Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile, 28 1 1 6 0 0 0 0 8
Epileptic encephalopathy, early infantile, 1 2 2 0 0 1 0 0 5
See cases 1 1 0 2 1 0 0 5
Spinocerebellar ataxia, autosomal recessive 12 1 1 1 0 0 0 1 4
Epileptic encephalopathy 0 2 0 0 0 0 0 2
Rolandic epilepsy 2 0 0 0 0 0 0 2
Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile, 28 1 0 1 0 0 0 0 2
Autism spectrum disorder 0 0 0 0 0 1 0 1
Epilepsy; Intellectual disability 1 0 0 0 0 0 0 1
Esophageal squamous cell carcinoma, somatic 1 0 0 0 0 0 0 1
Global developmental delay; Abnormal facial shape; Brain atrophy 0 1 0 0 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 1 1 0 0 1
Premature ovarian failure 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 25 6 193 62 21 0 0 307
GeneDx 5 6 22 63 46 0 0 142
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 23 0 0 23
Athena Diagnostics Inc 0 0 1 2 16 0 0 19
Lineagen, Inc 9 0 6 0 0 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 3 1 9 2 0 0 0 15
Baylor Genetics 5 0 8 0 0 0 0 13
PreventionGenetics, PreventionGenetics 0 0 0 1 12 0 0 13
Genetic Services Laboratory, University of Chicago 0 0 4 4 2 0 0 10
OMIM 9 0 0 0 0 0 0 9
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 9 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 1 0 5 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 4 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 3 0 0 0 0 5
Mendelics 2 1 0 0 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 0 0 4
ISCA site 1 1 1 0 1 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 0 2
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 2 0 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 0 1
ISCA site 6 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 0 0 1

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