ClinVar Miner

Variants studied for L1 syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
56 43 42 5 4 142

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
L1CAM 56 43 40 5 4 140
ATN1 0 0 1 0 0 1
LOC130059847, TUBB3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 8 0 0 0 20
OMIM 17 0 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 3 2 0 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 6 1 3 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 1 0 7
Fulgent Genetics, Fulgent Genetics 0 2 3 2 0 7
3billion 0 3 3 0 0 6
Genetic Services Laboratory, University of Chicago 4 0 2 0 0 6
Mendelics 1 1 0 1 3 6
Baylor Genetics 1 1 3 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 4 0 0 4
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 4
Genetics Department, Polish Mother's Memorial Hospital Research Institute 1 2 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 3
MVZ Praenatalmedizin und Genetik Nuernberg 0 2 1 0 0 3
Centre for Medical Genetics, Mumbai 0 0 1 1 0 2
Ege University Pediatric Genetics, Ege University 2 0 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 0 2 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 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
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 1
Dasa 1 0 0 0 0 1
Department Of Medical Genetics, Apollo Hospitals 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
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 1
Deyang Key Laboratory of Birth Defects Prevention and Control, Deyang People's Hospital 1 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 1
Genetic Metabolism Laboratory, West China Second University Hospital, Sichuan University 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 1
Wenzhou Central Hospital 0 1 0 0 0 1

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