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
56 23 543 163 68 764

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 4 22 8 455 63 12 557
Mononeuropathy of the Median Nerve 0 0 318 52 12 381
not provided 13 12 59 84 52 203
not specified 1 0 17 43 24 75
Charcot-Marie-Tooth disease 8 0 54 0 0 62
Charcot-Marie-Tooth disease, type 4C 26 5 1 0 1 32
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
Mononeuropathy of the median nerve, mild 2 0 0 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
Inborn genetic diseases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 321 52 12 385
Invitae 22 8 140 88 35 293
GeneDx 11 10 31 36 31 119
Inherited Neuropathy Consortium 7 0 37 0 0 44
Athena Diagnostics Inc 4 1 20 10 8 43
Genesis Genome Database 0 0 29 0 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 20 6 0 27
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
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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 1 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

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