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
64 33 712 248 163 1071

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease, type 4C 27 8 349 72 111 563
Mononeuropathy of the median nerve, mild 2 0 308 97 125 531
Charcot-Marie-Tooth disease type 4 32 10 263 74 36 412
Charcot-Marie-Tooth disease 12 6 123 54 14 203
not provided 15 12 66 39 22 150
not specified 1 0 17 43 24 75
Mononeuropathy of the Median Nerve 0 0 50 6 1 56
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
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
Genetic motor neuron disease 0 1 0 0 0 1
Hemihypertrophy; Scoliosis; Congenital contracture; Arthrogryposis multiplex congenita; Decreased muscle mass; Amyoplasia; Short lower limbs; Internally rotated shoulders; Upper limb undergrowth 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 spastic paraplegia 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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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 32 10 210 95 35 382
Molecular Genetics Laboratory,London Health Sciences Centre 5 5 73 54 14 151
GeneDx 11 10 31 36 31 119
Inherited Neuropathy Consortium 7 3 38 0 0 48
Athena Diagnostics Inc 4 1 20 10 8 43
CeGaT Praxis fuer Humangenetik Tuebingen 4 1 28 4 0 37
Genesis Genome Database 0 0 29 0 0 29
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 14 1 7 23
GeneReviews 21 0 0 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 6 2 4 13
OMIM 8 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 1 5 0 6
PreventionGenetics,PreventionGenetics 0 0 0 0 5 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
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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 2 0 0 2
Institute of Human Genetics,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
Division of Genomic Diagnostics,The 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
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
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: 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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