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
18 9 100 53 26 43 200

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 2E 12 1 64 15 10 0 102
not provided 2 6 15 5 9 43 74
Charcot-Marie-Tooth disease, type I 0 0 14 21 4 0 39
not specified 0 0 10 19 9 0 33
Charcot-Marie-Tooth disease, demyelinating, type 1f 8 1 0 0 0 0 9
Charcot-Marie-Tooth disease 0 0 5 0 0 0 5
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 2 0 0 0 0 0 2
Charcot-Marie-Tooth disease, demyelinating, type 1f; Charcot-Marie-Tooth disease type 2E; CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 0 0 2 0 0 0 2
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
Inborn genetic diseases 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: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 1 64 15 10 0 94
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 43 43
Illumina Clinical Services Laboratory,Illumina 0 0 14 21 4 0 39
GeneDx 2 1 8 19 5 0 35
Inherited Neuropathy Consortium 0 0 8 3 5 0 16
OMIM 11 0 0 0 0 0 11
Athena Diagnostics Inc 0 0 7 0 4 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 2 0 0 11
GeneReviews 8 0 0 0 0 0 8
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 4 0 0 1 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 3 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 1 2 0 4
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 1
Neurology Department,Peking University First Hospital 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1

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