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
69 17 76 38 32 213

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 39 11 35 5 4 92
Spastic paraplegia 13 4 19 3 21 60
not specified 0 0 14 25 21 56
History of neurodevelopmental disorder 0 0 6 10 11 27
X-linked hydrocephalus syndrome 11 1 2 0 0 14
Spastic paraplegia 1 6 0 1 0 0 7
Hydrocephalus due to aqueductal stenosis 4 0 2 0 0 6
Corpus callosum, partial agenesis of, X-linked 2 0 1 0 0 3
Hydrocephalus, X-linked, with hirschsprung disease 3 0 0 0 0 3
See cases 3 0 0 0 0 3
L1 syndrome 2 0 0 0 0 2
Hirschsprung disease 0 0 0 1 0 1
Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction 1 0 0 0 0 1
Spastic paraplegia 1; Corpus callosum, partial agenesis of, X-linked; X-linked hydrocephalus syndrome 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 37 9 10 18 0 74
Invitae 13 4 19 3 21 60
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 0 6 10 11 27
OMIM 18 0 0 0 0 18
PreventionGenetics 0 0 0 4 10 14
Athena Diagnostics Inc 0 0 3 0 3 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 3 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 3
Ege University Pediatric Genetics,Ege University 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 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
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
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

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