ClinVar Miner

Variants studied for GNE myopathy

Included ClinVar conditions (5):
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 total
29 7 35 21 9 1 97

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 total
GNE 28 7 35 21 9 1 96
SQSTM1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects total
Illumina Clinical Services Laboratory,Illumina 2 0 34 21 9 0 66
OMIM 13 0 0 0 0 0 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 12 1 0 0 0 0 13
Fulgent Genetics 2 4 1 0 0 0 7
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 3 0 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 3
GeneReviews 2 0 0 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 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

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