ClinVar Miner

Variants in gene IQSEC2

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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
90 39 179 176 48 1 481

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mental retardation, X-linked 1 57 15 124 80 28 1 300
not provided 31 19 39 48 19 0 152
not specified 0 0 16 67 13 0 91
History of neurodevelopmental disorder 0 0 4 14 8 0 26
Inborn genetic diseases 4 1 5 1 0 0 11
Intellectual disability 3 2 2 0 0 0 7
See cases 2 1 0 0 0 0 3
Abnormality of brain morphology 0 1 0 0 0 0 1
Autism spectrum disorder 0 1 0 0 0 0 1
Autistic disorder of childhood onset; Severe intellectual deficiency 0 1 0 0 0 0 1
Mental retardation, X-linked 18 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 0 1 0 0 1
Seizures 0 0 1 0 0 0 1
Severe intellectual deficiency 0 1 0 0 0 0 1
Specific learning disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 35 6 108 96 37 0 282
GeneDx 25 14 19 80 14 0 152
Ambry Genetics 4 1 9 15 8 0 36
Genetic Services Laboratory, University of Chicago 2 0 14 6 3 0 25
CeGaT Praxis fuer Humangenetik Tuebingen 6 3 9 5 0 0 23
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 14 0 4 0 18
OMIM 8 0 0 0 0 0 8
Athena Diagnostics Inc 0 1 0 0 6 0 7
Baylor Genetics 0 1 4 0 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 3 1 1 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 1 1 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 2 1 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 0 0 4
Mendelics 2 0 1 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 1 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 1 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 1 0 0 2
Laboratory of Molecular Genetics,CHU Rennes 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Biochemical and Molecular Genetics Department, Hospital Clinic of 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
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
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 0 1

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