Variants studied for Glycogen storage disease due to muscle beta-enolase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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	not provided	total
6	2	141	125	22	1	280

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ENO3	6	2	141	125	22	1	280

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	0	0	128	117	20	0	265
Illumina Laboratory Services, Illumina	0	0	17	4	10	0	31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	5	0	6
OMIM	5	0	0	0	0	0	5
Fulgent Genetics, Fulgent Genetics	0	0	1	4	0	0	5
Centogene AG - the Rare Disease Company	0	0	2	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	1	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	1	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Institute of Human Genetics, Cologne University	0	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Center for Computational Genomics and Data Science, University of Alabama	1	0	0	0	0	0	1

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