ClinVar Miner

Variants in gene NEFL

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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 not provided total
26 15 199 85 39 43 340

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 2E 18 1 121 40 12 0 192
not provided 2 7 23 17 8 43 94
Charcot-Marie-Tooth disease 5 4 33 17 3 0 61
Charcot-Marie-Tooth disease, demyelinating, type 1f 9 2 24 7 14 0 56
not specified 0 0 10 19 10 0 33
Charcot-Marie-Tooth disease, type I 0 0 5 10 4 0 19
Charcot-Marie-Tooth disease, demyelinating, type 1f; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, dominant intermediate G 1 0 2 0 0 0 3
Charcot-Marie-Tooth disease, dominant intermediate G 2 0 1 0 0 0 3
none provided 0 0 2 0 1 0 3
Inborn genetic diseases 0 0 2 0 0 0 2
Autosomal dominant distal hereditary motor neuropathy 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 1C 1 0 0 0 0 0 1
Decreased nerve conduction velocity; Distal muscle weakness; Hand muscle atrophy; Peripheral demyelination; Peripheral neuropathy 1 0 0 0 0 0 1
Distal spinal muscular atrophy 0 0 1 0 0 0 1
Hereditary motor neuron disease 0 0 1 0 0 0 1
Pes cavus; Distal lower limb muscle weakness; Peripheral neuropathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 1 120 47 12 0 191
Illumina Clinical Services Laboratory,Illumina 0 0 25 17 18 0 60
Molecular Genetics Laboratory,London Health Sciences Centre 5 3 17 17 3 0 45
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 43 43
GeneDx 2 1 8 19 5 0 35
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 13 3 0 0 18
Inherited Neuropathy Consortium 0 1 9 3 5 0 18
Athena Diagnostics Inc 0 2 10 0 4 0 16
Genesis Genome Database 0 0 12 0 0 0 12
OMIM 11 0 0 0 0 0 11
GeneReviews 8 0 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 1 4 0 7
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 4 0 0 1 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 1 2 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 2 0 0 0 4
Ambry Genetics 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Neurology Department,Peking University First Hospital 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
CMT Laboratory,Bogazici University 0 1 0 0 0 0 1

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