ClinVar Miner

Variants in gene WWOX

See also:
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 association total
27 16 91 72 55 5 246

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 7 2 66 20 20 0 115
not specified 0 0 7 54 20 0 78
not provided 6 8 23 6 34 0 74
Epileptic encephalopathy, early infantile, 28 10 2 1 0 0 0 13
Malignant tumor of esophagus; Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile, 28 1 0 6 0 0 0 7
Autism spectrum disorder 0 0 0 0 0 5 5
See cases 1 1 0 2 1 0 5
Spinocerebellar ataxia, autosomal recessive 12 1 1 1 0 0 0 3
Epileptic encephalopathy 0 2 0 0 0 0 2
Rolandic epilepsy 2 0 0 0 0 0 2
Esophageal squamous cell carcinoma, somatic 1 0 0 0 0 0 1
Global developmental delay; Abnormal facial shape; Brain atrophy 0 1 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 1 1 0 1
Premature ovarian failure 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Invitae 7 2 66 20 20 0 115
GeneDx 5 6 22 53 19 0 105
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 23 0 23
Athena Diagnostics Inc 0 0 1 4 14 0 19
PreventionGenetics 0 0 0 1 12 0 13
Genetic Services Laboratory, University of Chicago 0 0 4 4 2 0 10
OMIM 9 0 0 0 0 0 9
Fulgent Genetics 1 0 5 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 4 0 0 6
Geschwind lab,University of California Los Angeles 0 0 0 0 0 5 5
Baylor Miraca Genetics Laboratories, 3 0 1 0 0 0 4
ISCA site 1 1 1 0 1 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 2
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 2 0 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
ISCA site 6 0 0 0 1 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.