ClinVar Miner

Variants in gene IQSEC2

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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
142 62 450 458 146 2 1133

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Intellectual disability, X-linked 1 103 27 302 348 126 2 890
not provided 42 23 139 98 30 0 315
Inborn genetic diseases 7 4 44 42 8 0 104
not specified 0 0 24 48 14 0 83
IQSEC2-related condition 0 0 10 14 2 0 26
See cases 3 1 3 0 0 0 7
Intellectual disability 3 2 1 0 0 0 6
Neurodevelopmental disorder 0 0 1 1 0 0 2
Seizure 0 1 1 0 0 0 2
Tip-toe gait 0 2 0 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 1
Autism spectrum disorder 0 1 0 0 0 0 1
Autism; Severe intellectual deficiency 0 1 0 0 0 0 1
IQSEC2-related X-linked neurodevelopmental disorder 0 0 1 0 0 0 1
Intellectual developmental disorder, X-linked 108 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Paraplegia-intellectual disability-hyperkeratosis syndrome 1 0 0 0 0 0 1
Severe intellectual deficiency 0 1 0 0 0 0 1
Specific learning disability 0 0 1 0 0 0 1
Specific learning disability; Involuntary movements 0 0 1 0 0 0 1
Undetermined early-onset epileptic encephalopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 72 10 267 345 126 0 820
GeneDx 34 15 100 113 34 0 296
Ambry Genetics 7 4 44 42 8 0 104
CeGaT Center for Human Genetics Tuebingen 7 5 20 26 0 0 58
Genetic Services Laboratory, University of Chicago 3 0 18 6 3 0 30
PreventionGenetics, part of Exact Sciences 0 0 10 14 2 0 26
Eurofins Ntd Llc (ga) 0 0 14 0 4 0 18
Revvity Omics, Revvity 1 2 8 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 8 0 0 10
OMIM 9 0 0 0 0 0 9
Mendelics 6 0 2 0 1 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 5 1 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 7 0 0 8
Athena Diagnostics Inc 0 1 0 0 6 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 3 3 0 0 0 7
Baylor Genetics 0 1 5 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 1 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 3 2 1 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 3 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 2 1 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 1 1 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 2 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 1 0 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 3 1 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 1 1 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
3billion 1 1 1 0 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 1 0 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 1 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Laboratory of Molecular Genetics, CHU Rennes 0 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
Hunter Genetics General Clinical Genetics Service, Hunter Genetics 0 1 1 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Laboratory of Medical Genetics, University of Torino 1 0 1 0 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 1 1 0 0 0 0 2
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Medical Genetics, University of Pavia 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Liping Wei Laboratory, Peking University 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 1 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 0 1 0 0 1

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