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
54 21 231 56 34 351

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease, type 4A 39 6 90 27 4 164
Charcot-Marie-Tooth disease, recessive intermediate A 8 0 61 7 15 91
Charcot-Marie-Tooth disease 7 4 62 13 5 88
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 2 0 60 8 15 85
not provided 15 11 22 12 13 68
Charcot-Marie-Tooth disease axonal type 2K 13 1 4 0 0 18
Charcot-Marie-Tooth with Vocal Cord Paresis 0 0 7 2 0 9
Charcot-Marie-Tooth, Intermediate 0 0 7 2 0 9
not specified 0 0 2 6 2 9
Charcot-Marie-Tooth disease axonal 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, type I 0 0 2 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 axonal type 2K; Charcot-Marie-Tooth disease, type 4A 0 0 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate A 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4 0 0 1 0 0 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
Pes cavus 0 0 1 0 0 1
none provided 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 33 5 89 28 4 159
Illumina Clinical Services Laboratory,Illumina 1 0 68 10 15 93
Inherited Neuropathy Consortium 5 2 51 0 0 58
GeneDx 10 6 11 11 12 50
Molecular Genetics Laboratory,London Health Sciences Centre 2 2 8 13 5 30
OMIM 19 0 0 0 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 6 0 10 0 0 16
Athena Diagnostics Inc 3 2 3 2 1 11
Genesis Genome Database 0 0 11 0 0 11
GeneReviews 4 0 0 0 0 4
CMT Laboratory,Bogazici University 4 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 3
Institute of Human Genetics,Cologne University 3 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 2 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 1 0 0 2
Ambry Genetics 0 0 2 0 0 2
Mendelics 0 1 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 1
Neurology Department,Peking University First Hospital 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 1 0 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 1

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