ClinVar Miner

Variants in gene WWOX

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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 association not provided total
46 20 150 105 84 1 1 383

Condition and significance breakdown #

Total conditions: 16
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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 14 3 115 34 20 0 0 186
not provided 17 7 37 31 65 0 0 151
not specified 0 0 7 54 20 0 0 78
Epileptic encephalopathy, early infantile, 28 10 4 1 0 0 0 0 15
Malignant tumor of esophagus; Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile, 28 1 1 6 0 0 0 0 8
See cases 1 1 0 2 1 0 0 5
Epileptic encephalopathy, early infantile, 1 2 1 0 0 1 0 0 4
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
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
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: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 14 3 115 49 21 0 0 202
GeneDx 5 6 22 63 47 0 0 143
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
PreventionGenetics,PreventionGenetics 0 0 0 1 12 0 0 13
Genetic Services Laboratory, University of Chicago 0 0 4 4 2 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 6 1 0 0 0 10
OMIM 9 0 0 0 0 0 0 9
Baylor Genetics 4 0 2 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 5 0 0 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 6 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 4 0 0 0 6
Mendelics 2 1 0 0 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 0 2
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 2 0 0 0 0 0 0 2
Division of Genomic Diagnostics,The 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
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
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
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
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

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