ClinVar Miner

Variants in gene GNE

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 affects not provided total
69 73 267 102 46 1 1 465

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
GNE myopathy 26 56 125 25 12 1 1 231
GNE myopathy; Sialuria 46 14 81 60 4 0 0 200
not provided 30 7 118 19 16 0 0 182
Sialuria 4 1 64 11 28 0 0 107
Inclusion Body Myopathy, Recessive 0 0 31 21 9 0 0 61
not specified 0 0 0 16 7 0 0 21
Thrombocytopenia 0 2 0 0 0 0 0 2
Inborn genetic diseases 0 1 0 0 0 0 0 1
Inclusion body myositis; GNE myopathy 1 0 0 0 0 0 0 1
Seizures 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 45 9 81 65 4 0 0 204
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 24 2 112 1 5 0 0 144
Illumina Clinical Services Laboratory,Illumina 2 0 74 26 28 0 0 105
Counsyl 5 45 35 0 0 0 0 85
GeneDx 6 4 6 20 18 0 0 54
Natera, Inc. 9 2 22 4 3 0 0 40
OMIM 16 0 0 0 0 0 0 16
GeneReviews 13 0 0 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 7 0 4 2 0 0 0 13
Myriad Women's Health, Inc. 5 7 0 0 0 0 0 12
PreventionGenetics, PreventionGenetics 0 0 0 4 5 0 0 9
Fulgent Genetics,Fulgent Genetics 2 4 1 0 0 0 0 7
Baylor Genetics 4 2 0 0 0 0 0 6
Athena Diagnostics Inc 2 0 2 1 1 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 0 0 0 0 0 4
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 2 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 0 1
FirmaLab,FirmaLab 1 0 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 1 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
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
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
Emory University School of Medicine, Department of Human Genetics,Emory University 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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1

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