ClinVar Miner

Variants in gene GDAP1

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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
39 12 146 30 23 225

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease, type 4A 20 4 49 11 2 86
Charcot-Marie-Tooth disease 6 0 50 0 0 56
not provided 12 8 17 6 13 53
Charcot-Marie-Tooth with Vocal Cord Paresis 0 0 37 8 7 52
Charcot-Marie-Tooth, Intermediate 0 0 37 8 7 52
Charcot-Marie-Tooth disease type 2K 12 0 0 0 0 12
not specified 0 0 2 6 2 9
Charcot-Marie-Tooth disease, recessive intermediate A 8 0 0 0 0 8
Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate A 2 0 1 0 0 3
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 2 0 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 2
Neuropathy, axonal, with vocal cord paresis, autosomal recessive 2 0 0 0 0 2
Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, type 4A 0 0 0 0 1 1
Elevated serum creatine phosphokinase; Sensory neuropathy; Polyneuropathy; Elevated alkaline phosphatase; Peripheral axonal neuropathy 1 0 0 0 0 1
GDAP1-Related Disorders 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 16 4 49 11 2 82
Inherited Neuropathy Consortium 5 0 51 0 0 56
Illumina Clinical Services Laboratory,Illumina 1 0 37 8 7 53
GeneDx 10 6 11 11 12 50
OMIM 19 0 0 0 0 19
Athena Diagnostics Inc 2 0 2 1 1 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 0 0 6
GeneReviews 4 0 0 0 0 4
Institute of Human Genetics,Cologne University 3 0 0 0 0 3
Ambry Genetics 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 1
PreventionGenetics 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Neurology Department,Peking University First Hospital 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 1 0 0 0 0 1

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