ClinVar Miner

Variants in gene L1CAM

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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 total
83 32 100 68 59 304

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 42 12 44 28 26 143
Spastic paraplegia 25 6 28 18 30 107
not specified 0 0 15 25 21 57
History of neurodevelopmental disorder 0 0 6 10 11 27
X-linked hydrocephalus syndrome 16 5 2 0 0 22
MASA syndrome 6 3 3 0 0 12
Hydrocephalus due to aqueductal stenosis 4 0 2 0 0 6
L1 syndrome 4 2 0 0 0 6
Corpus callosum, partial agenesis of, X-linked 2 0 2 0 0 4
Inborn genetic diseases 0 2 2 0 0 4
Hydrocephalus, X-linked, with hirschsprung disease 3 0 0 0 0 3
See cases 3 0 0 0 0 3
Intellectual disability 0 1 1 0 0 2
MASA syndrome; Corpus callosum, partial agenesis of, X-linked; X-linked hydrocephalus syndrome 0 1 1 0 0 2
Congenital cerebellar hypoplasia 0 1 0 0 0 1
Hirschsprung disease 0 0 0 1 0 1
Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction 1 0 0 0 0 1
Severe hydrocephalus; Hydrops fetalis 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 25 6 28 31 51 141
GeneDx 39 9 10 18 0 76
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 1 24 3 16 47
Genetic Services Laboratory, University of Chicago 4 0 10 7 12 33
Ambry Genetics 0 2 8 10 11 31
OMIM 18 0 0 0 0 18
PreventionGenetics, PreventionGenetics 0 0 0 4 10 14
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 9 2 0 13
Athena Diagnostics Inc 0 0 5 0 7 12
Integrated Genetics/Laboratory Corporation of America 2 2 2 0 0 6
Baylor Genetics 1 1 3 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 3 5
Mendelics 1 1 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
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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 of Human Genetics, 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 for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Kasturba Medical College, Manipal University 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 1
Center for Reproductive Medicine, Peking University Third Hospital 1 0 0 0 0 1

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