ClinVar Miner

Variants studied for GNE myopathy

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 affects not provided total
53 114 166 26 14 1 12 331

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
GNE 53 114 165 25 14 1 12 329
GNE, LOC130001749 0 0 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Illumina Laboratory Services, Illumina 2 0 71 21 10 0 0 104
Natera, Inc. 17 5 59 4 4 0 0 89
Counsyl 5 44 35 0 0 0 0 84
Baylor Genetics 32 40 0 0 0 0 0 72
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 10 0 0 0 0 0 27
Myriad Genetics, Inc. 5 15 0 0 0 0 0 20
OMIM 13 0 0 0 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 4 3 5 0 0 0 0 12
GeneReviews 0 0 0 0 0 0 10 10
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 3 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 1 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 0 4
Genome-Nilou Lab 0 0 1 1 2 0 0 4
MGZ Medical Genetics Center 1 1 1 0 0 0 0 3
Sema4, Sema4 2 0 1 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 1 0 3
3billion, Medical Genetics 2 1 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 0 2
GenePathDx, GenePath diagnostics 2 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 2
FirmaLab, FirmaLab 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 0 1

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