ClinVar Miner

Variants in gene SH3TC2

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Minimum submission review status: Collection method:
Minimum conflict level:
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
51 21 490 124 45 664

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease type 4 19 7 415 93 37 551
Mononeuropathy of the Median Nerve 0 0 318 52 12 381
not provided 13 12 49 5 2 78
not specified 0 0 18 42 23 74
Charcot-Marie-Tooth disease 8 0 39 0 0 47
Charcot-Marie-Tooth disease, type 4C 24 4 0 0 0 27
Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild 1 0 3 0 0 4
SH3TC2-Related Disorders 1 0 3 0 0 4
Mononeuropathy of the median nerve, mild 2 0 0 0 0 2
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: 25
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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 19 7 105 41 25 197
GeneDx 11 10 31 35 14 101
Inherited Neuropathy Consortium 7 0 37 0 0 44
Athena Diagnostics Inc 4 1 12 4 5 26
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 14 1 7 23
GeneReviews 21 0 0 0 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 12 4 0 17
OMIM 8 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 0 1 7
Genetic Services Laboratory, University of Chicago 0 0 1 5 0 6
PreventionGenetics 0 0 0 0 5 5
Fulgent Genetics 1 0 3 0 0 4
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
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 1 0 0 0 2
Institute of Human Genetics,University of Goettingen 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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