ClinVar Miner

Variants in gene HUWE1

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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 not provided total
17 39 123 94 62 2 296

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 5 17 49 39 55 0 160
History of neurodevelopmental disorder 0 0 10 27 23 0 60
not specified 0 0 24 26 6 0 55
Syndromic X-linked intellectual disability Turner type 13 17 18 2 1 1 48
Inborn genetic diseases 0 1 15 0 0 0 16
Intellectual disability 1 3 8 3 0 0 15
Global developmental delay 1 0 1 0 0 0 2
Neurodevelopmental abnormality 0 0 0 2 0 0 2
Abnormality of the corpus callosum 0 1 0 0 0 0 1
Blepharophimosis; Atrial septal defect; Visual impairment; Hypothyroidism; Abnormal facial shape; Excessive wrinkled skin; Severe global developmental delay; Ventricular septal defect 0 0 1 0 0 0 1
HUWE1-Related Disorder 0 0 0 0 0 1 1
HUWE1-related neurodevelopmental disorder 0 1 0 0 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1
Trigonocephaly-short stature-developmental delay syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 2 4 35 54 0 97
Ambry Genetics 0 1 25 27 23 0 76
Genetic Services Laboratory, University of Chicago 0 0 21 20 5 0 46
GeneDx 4 10 18 6 0 0 38
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 3 14 0 0 1 0 18
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 14 0 1 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 10 2 0 0 15
OMIM 11 0 0 0 0 0 11
Diagnostic Laboratory, Strasbourg University Hospital 0 2 8 1 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 0 0 6 1 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 3 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 1 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 2 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Institute of Bioinformatics 0 1 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1

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