Variants studied for Glycogen storage disease, type VII

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
49	94	174	559	41	2	876

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	not provided	total
PFKM	49	93	174	554	41	2	870
MIR6505, PFKM	0	1	0	5	0	0	6

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	43	27	109	547	24	0	750
Baylor Genetics	5	43	3	0	0	0	51
Natera, Inc.	3	5	22	12	9	0	51
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	1	2	18	17	12	0	50
Illumina Laboratory Services, Illumina	1	0	32	6	10	0	49
Revvity Omics, Revvity	2	2	24	0	0	0	28
Fulgent Genetics, Fulgent Genetics	4	21	2	0	0	0	27
Myriad Genetics, Inc.	1	22	0	0	0	0	23
Pars Genome Lab	0	0	0	1	14	0	15
Genome-Nilou Lab	0	0	4	2	4	0	10
OMIM	9	0	0	0	0	0	9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	3	0	0	0	0	4
Counsyl	0	0	1	1	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	2	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	0	0	0	1	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	1	0	0	0	0	1

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