ClinVar Miner

Variants in gene CUX1

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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 not provided total
28 34 282 98 28 1 453

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 6 4 125 65 23 1 221
Inborn genetic diseases 3 2 90 20 0 0 115
Global developmental delay with or without impaired intellectual development 19 25 50 4 8 0 100
CUX1-related disorder 0 2 12 25 5 0 44
not specified 0 0 13 1 0 0 14
Duane retraction syndrome 0 0 3 0 0 0 3
Neurodevelopmental disorder 1 1 0 0 0 0 2
See cases 0 0 2 0 0 0 2
Intellectual disability 1 0 0 0 0 0 1
Myeloproliferative neoplasm 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 3 2 90 20 0 0 115
CeGaT Center for Human Genetics Tuebingen 2 1 30 58 7 0 98
GeneDx 2 1 86 0 1 0 90
PreventionGenetics, part of Exact Sciences 0 2 12 25 5 0 44
Institute of Human Genetics, University of Leipzig Medical Center 7 12 7 0 0 0 25
Labcorp Genetics (formerly Invitae), Labcorp 0 0 6 9 9 0 24
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 11 0 15
Revvity Omics, Revvity 0 1 13 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 11 1 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 2 0 0 10
Genome-Nilou Lab 0 0 0 0 8 0 8
OMIM 7 0 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 1 6 0 0 0 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 3 0 0 0 5
New York Genome Center 1 1 3 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 1 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 1 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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