Variants studied for Glycogen storage disease due to lactate dehydrogenase M-subunit 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)

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	total
9	6	106	71	13	193

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	total
LDHA	9	6	105	71	13	192
GTF2H1, HPS5, LDHA	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	6	4	48	67	9	134
Illumina Laboratory Services, Illumina	0	0	35	4	9	48
Fulgent Genetics, Fulgent Genetics	1	2	29	6	0	38
Genome-Nilou Lab	0	0	0	0	3	3
OMIM	1	0	1	0	0	2
Revvity Omics, Revvity	0	0	2	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	1	1
Baylor Genetics	0	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	1
Institute of Human Genetics Munich, TUM University Hospital	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1

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