ClinVar Miner

Variants in gene GNE

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 total
43 59 194 68 29 1 348

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects total
not provided 26 6 117 39 18 0 190
GNE myopathy 24 49 71 21 9 1 165
Sialuria 3 0 32 21 9 0 65
Inclusion Body Myopathy, Recessive 0 0 31 21 9 0 61
GNE myopathy; Sialuria 8 7 32 3 1 0 48
not specified 0 0 0 16 7 0 21
Thrombocytopenia 0 2 0 0 0 0 2
Inclusion body myositis; GNE myopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 24 2 112 1 5 0 144
Counsyl 10 45 35 0 0 0 90
Invitae 9 3 32 35 4 0 83
Illumina Clinical Services Laboratory,Illumina 2 0 34 21 9 0 66
GeneDx 6 4 6 20 18 0 54
OMIM 16 0 0 0 0 0 16
PreventionGenetics,PreventionGenetics 0 0 0 4 5 0 9
Fulgent Genetics,Fulgent Genetics 2 4 1 0 0 0 7
GeneReviews 6 0 0 0 0 0 6
Baylor Genetics 3 2 0 0 0 0 5
Athena Diagnostics Inc 2 0 2 1 0 0 5
Sema4, Sema4 2 0 1 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 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 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
GenePathDx,Causeway Health Care Private Ltd 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
FirmaLab 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1

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