ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4C

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
52 45 385 73 111 15 650

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 52 45 372 69 106 15 628
LOC126807546, SH3TC2 0 0 11 4 5 0 20
LOC114004390, SH3TC2 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 349 72 110 0 531
Fulgent Genetics, Fulgent Genetics 15 16 10 1 0 0 42
GeneReviews 0 0 0 0 0 14 14
3billion 7 3 1 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 4 5 2 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 9 0 0 0 10
Baylor Genetics 2 0 6 0 0 0 8
OMIM 8 0 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 0 7
Kariminejad - Najmabadi Pathology & Genetics Center 4 2 0 0 0 0 6
CMT Laboratory, Bogazici University 4 1 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Mendelics 4 0 0 0 1 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 3 0 0 0 5
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 4
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 3 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Next Generation Genetic Polyclinic 1 1 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Laboratory of Applied Genomics, Kongju National University 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 1 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 0 1 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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