ClinVar Miner

Variants in gene SH3TC2

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Minimum submission review status: Collection method:
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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 total
73 39 766 289 163 1164

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 4C 25 9 356 72 111 567
Mononeuropathy of the median nerve, mild 2 1 308 97 125 532
Charcot-Marie-Tooth disease type 4 42 11 309 125 36 519
Charcot-Marie-Tooth disease 12 6 123 54 14 203
not provided 18 14 70 40 23 158
not specified 0 0 17 43 24 73
Mononeuropathy of the Median Nerve 0 0 50 6 1 56
none provided 1 0 2 2 3 8
Charcot-Marie-Tooth disease, type I 0 0 7 0 0 7
Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild 1 0 3 0 0 4
Distal spinal muscular atrophy 0 0 4 0 0 4
SH3TC2-Related Disorders 1 0 3 0 0 4
Toe walking 0 2 2 0 0 4
Hereditary motor and sensory neuropathy 0 0 2 0 0 2
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 0 1 0 0 1
Ependymoma 0 0 1 0 0 1
Hemihypertrophy; Scoliosis; Congenital contracture; Arthrogryposis multiplex congenita; Decreased muscle mass; Short lower limbs; Upper limb undergrowth 0 0 1 0 0 1
Hereditary motor neuron disease 0 1 0 0 0 1
Hereditary spastic paraplegia 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 403 118 128 590
Invitae 42 11 255 138 35 481
Molecular Genetics Laboratory,London Health Sciences Centre 5 5 73 54 14 151
GeneDx 11 10 31 36 31 119
Athena Diagnostics Inc 4 1 24 11 10 50
Inherited Neuropathy Consortium 7 3 38 0 0 48
CeGaT Praxis fuer Humangenetik Tuebingen 6 1 27 5 0 39
Genesis Genome Database 0 0 29 0 0 29
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 14 1 7 23
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 9 4 6 20
GeneReviews 14 0 0 0 0 14
OMIM 8 0 0 0 0 8
Baylor Genetics 1 0 6 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 1 5 0 6
PreventionGenetics, PreventionGenetics 0 0 0 0 5 5
CMT Laboratory,Bogazici University 4 1 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 1 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 4
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 2 2 0 0 4
Mendelics 2 0 0 0 1 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 3
Dept. of Medical Genetics, Telemark Hospital Trust 1 0 2 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 2 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 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
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 1 0 0 1

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