ClinVar Miner

Variants in gene combination ARX, LOC109610631

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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 not provided total
22 5 70 76 16 1 157

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 10 1 42 61 8 0 122
not provided 6 1 26 19 9 0 47
Inborn genetic diseases 2 0 9 13 2 0 26
Developmental and epileptic encephalopathy, 1 6 2 2 0 1 0 10
not specified 0 0 4 5 3 0 10
X-linked lissencephaly with abnormal genitalia 7 1 1 0 0 0 9
ARX-related condition 0 0 2 4 0 0 6
Intellectual disability, X-linked, with or without seizures, arx-related 2 1 2 0 0 0 5
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome 1 0 1 0 0 0 2
ARX-associated condition 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; Partington syndrome 0 0 0 0 0 1 1
History of neurodevelopmental disorder 0 0 0 1 0 0 1
Partington syndrome 1 0 0 0 0 0 1
West syndrome 1 0 0 0 0 0 1
epileptic encephalopathy, early infanitle, 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 1 42 61 8 0 122
GeneDx 5 1 9 12 9 0 36
Ambry Genetics 2 0 9 14 2 0 27
Genetic Services Laboratory, University of Chicago 6 1 5 2 3 0 17
Eurofins Ntd Llc (ga) 2 0 9 1 1 0 13
CeGaT Center for Human Genetics Tuebingen 1 0 1 10 0 0 12
PreventionGenetics, part of Exact Sciences 0 0 2 5 0 0 7
OMIM 5 0 1 0 0 0 6
Revvity Omics, Revvity 0 0 4 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Athena Diagnostics Inc 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 1

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