ClinVar Miner

Variants in gene L1CAM

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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 total
116 73 301 600 301 1228

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spastic paraplegia 50 17 106 504 266 943
not provided 51 21 121 52 51 286
Inborn genetic diseases 2 4 36 30 19 91
not specified 0 0 29 26 23 74
L1CAM-related condition 3 6 8 25 1 43
X-linked hydrocephalus syndrome 22 10 3 1 4 39
Hereditary spastic paraplegia 0 0 11 12 4 27
L1 syndrome 10 8 0 0 0 18
MASA syndrome 8 4 5 0 1 18
X-linked complicated corpus callosum dysgenesis 3 2 3 0 1 9
MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 0 1 5 2 0 8
Hydrocephalus due to aqueductal stenosis 4 0 2 0 0 6
See cases 3 0 2 0 0 5
Intellectual disability 0 1 1 0 0 2
MASA syndrome; X-linked hydrocephalus syndrome 0 2 0 0 0 2
Aganglionic megacolon 0 0 0 1 0 1
Cerebellar ataxia; Peripheral neuropathy 0 0 1 0 0 1
Congenital cerebellar hypoplasia 0 1 0 0 0 1
Global developmental delay 1 0 0 0 0 1
History of neurodevelopmental disorder 0 0 1 0 0 1
Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction 1 0 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 1 0 0 0 1
Severe hydrocephalus; Hydrops fetalis 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 50 17 106 505 266 944
GeneDx 48 14 64 35 49 210
Ambry Genetics 2 4 37 30 19 92
PreventionGenetics, part of Exact Sciences 3 6 8 29 11 57
Eurofins Ntd Llc (ga) 3 1 24 3 16 47
CeGaT Center for Human Genetics Tuebingen 2 2 14 28 0 46
Genetic Services Laboratory, University of Chicago 5 0 11 7 12 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 7 16 1 1 33
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 11 12 4 27
Athena Diagnostics Inc 0 0 9 0 10 19
OMIM 18 0 0 0 0 18
Revvity Omics, Revvity 0 3 10 0 0 13
Mendelics 1 1 0 1 3 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 6
Baylor Genetics 1 1 3 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 3 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 1 3
Genetics Department, Polish Mother's Memorial Hospital Research Institute 1 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Ege University Pediatric Genetics, Ege University 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
ISCA Site 6 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Center for Reproductive Medicine, Peking University Third Hospital 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
DASA 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 1
Genetic Metabolism Laboratory, West China Second University Hospital, Sichuan University 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 1

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