ClinVar Miner

Variants in gene ARX

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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 total
57 16 127 92 16 279

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 5 0 74 42 10 131
not provided 15 5 37 25 2 84
not specified 0 0 9 36 7 51
Lissencephaly 2, X-linked 24 2 0 0 0 26
Epileptic encephalopathy, early infantile, 1 8 7 10 0 0 25
History of neurodevelopmental disorder 0 0 3 6 4 13
Mental retardation, with or without seizures, ARX-related, X-linked 3 2 2 2 1 10
epileptic encephalopathy, early infanitle, 1 3 0 6 0 0 9
Inborn genetic diseases 1 0 6 1 0 8
Intellectual disability 1 1 2 1 0 5
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked; Corpus callosum agenesis-abnormal genitalia syndrome; Lissencephaly 2, X-linked; Partington syndrome 0 0 2 0 0 2
Hydranencephaly with abnormal genitalia 2 0 0 0 0 2
See cases 0 0 0 2 0 2
Abnormal synaptic transmission 1 0 0 0 0 1
Corpus callosum agenesis-abnormal genitalia syndrome 1 0 0 0 0 1
Corpus callosum, agenesis of; Arachnoid cyst; Periventricular gray matter heterotopia 0 1 0 0 0 1
Generalized hypotonia 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 0 74 50 10 139
GeneDx 4 3 17 33 6 63
Genetic Services Laboratory, University of Chicago 21 2 11 9 4 47
OMIM 20 0 0 0 0 20
Ambry Genetics 1 0 9 7 4 20
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 11 0 2 18
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 7 3 0 13
Institute of Human Genetics, University of Leipzig Medical Center 1 3 5 0 0 8
Mendelics 2 2 0 0 0 4
Baylor Genetics 0 0 3 0 0 3
Athena Diagnostics Inc 0 0 0 0 3 3
Integrated Genetics/Laboratory Corporation of America 0 1 2 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 1 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 1 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
ISCA site 6 0 0 0 2 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Raymond Lab,University of Cambridge 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 1
SavaGenome Genetic Health Clinic 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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