ClinVar Miner

Variants in gene SH3TC2

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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 not provided total
121 64 1028 604 181 16 1722

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 4 83 15 495 401 47 0 1036
Charcot-Marie-Tooth disease type 4C 36 17 351 68 106 15 574
Susceptibility to mononeuropathy of the median nerve, mild 2 1 298 94 119 0 513
not provided 21 22 138 118 70 0 349
Inborn genetic diseases 4 2 163 66 0 0 235
Charcot-Marie-Tooth disease 12 6 123 54 14 0 203
not specified 0 0 20 31 25 0 66
Mononeuropathy of the Median Nerve 0 0 48 6 0 0 53
SH3TC2-related condition 1 0 5 17 7 0 30
Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild 5 3 11 1 0 0 20
Tip-toe gait 1 7 3 0 0 0 11
Charcot-Marie-Tooth disease, type I 0 0 7 0 0 0 7
SH3TC2-Related Disorders 1 0 3 0 0 1 5
Distal spinal muscular atrophy 0 0 4 0 0 0 4
Hereditary motor and sensory neuropathy 0 0 2 0 0 0 2
Peripheral neuropathy 0 2 0 0 0 0 2
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 1B 0 1 0 0 0 0 1
Delayed speech and language development; Pes cavus; Tip-toe gait; limited range of motion of the upper ankle 0 0 1 0 0 0 1
Ependymoma 0 0 1 0 0 0 1
Hemihypertrophy; Scoliosis; Congenital contracture; Arthrogryposis multiplex congenita; Decreased muscle mass; Short lower limbs; Upper limb undergrowth 0 0 1 0 0 0 1
Hereditary motor neuron disease 0 1 0 0 0 0 1
Hereditary spastic paraplegia 0 1 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 83 15 442 400 47 0 987
Illumina Laboratory Services, Illumina 1 0 390 114 121 0 567
GeneDx 11 13 61 109 77 0 271
Ambry Genetics 4 2 163 66 0 0 235
Molecular Genetics Laboratory, London Health Sciences Centre 5 5 73 54 14 0 151
Athena Diagnostics Inc 5 2 44 14 12 0 77
CeGaT Center for Human Genetics Tuebingen 9 1 32 23 1 0 66
Inherited Neuropathy Consortium 7 3 38 0 0 0 48
PreventionGenetics, part of Exact Sciences 1 0 5 17 12 0 35
Mayo Clinic Laboratories, Mayo Clinic 3 2 26 0 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 9 12 8 0 30
Genesis Genome Database 0 0 29 0 0 0 29
Eurofins Ntd Llc (ga) 1 0 14 1 7 0 23
Revvity Omics, Revvity 4 2 13 0 0 0 19
Fulgent Genetics, Fulgent Genetics 5 3 10 1 0 0 19
GeneReviews 0 0 0 0 0 14 14
Clinical Genetics, Academic Medical Center 2 1 2 1 6 0 12
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 1 7 4 0 0 0 11
OMIM 8 0 0 0 0 0 8
Baylor Genetics 2 0 6 0 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 1 0 4 0 8
Genetic Services Laboratory, University of Chicago 1 0 1 5 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 5 0 0 0 7
3billion 5 1 1 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 2 2 1 0 6
Mendelics 4 0 1 0 1 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
CMT Laboratory, Bogazici University 4 1 0 0 0 0 5
MGZ Medical Genetics Center 1 2 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 1 0 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 3 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 1 0 0 3
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 1 0 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Laboratory of Applied Genomics, Kongju National University 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

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