Variants studied for GNE myopathy

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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