ClinVar Miner

Variants in gene combination MAF, 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 total
9 6 102 75 21 195

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 5 0 80 51 7 143
not provided 1 5 25 28 17 70
not specified 0 0 8 10 6 23
Developmental and epileptic encephalopathy, 28 1 1 3 0 8 13
Autosomal recessive spinocerebellar ataxia 12 1 0 1 0 8 10
Inborn genetic diseases 0 0 7 0 0 7
WWOX-related condition 0 0 0 3 0 3
Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28 0 0 1 1 0 2
Neurodevelopmental delay 2 0 0 0 0 2
Childhood epilepsy with centrotemporal spikes 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 0 1 0 0 1
Global developmental delay 0 0 1 0 0 1
Intellectual disability 0 0 0 1 0 1
Malignant tumor of esophagus 0 0 0 1 1 1
Progressive myositis ossificans 0 0 1 0 0 1
See cases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 0 80 51 7 143
GeneDx 0 3 15 26 18 61
CeGaT Center for Human Genetics Tuebingen 1 0 7 14 2 24
Genome-Nilou Lab 0 0 0 0 8 8
Genetic Services Laboratory, University of Chicago 0 0 4 1 2 7
Ambry Genetics 0 0 7 0 0 7
Athena Diagnostics Inc 0 0 2 0 4 6
PreventionGenetics, part of Exact Sciences 0 0 0 3 2 5
Revvity Omics, Revvity 0 1 3 0 0 4
Mendelics 0 0 2 1 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 3
Baylor Genetics 0 0 2 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
OMIM 1 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 1 0 0 0 1
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 1 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1

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