Variants studied for Glycogen storage disease IXc

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	total
40	10	79	194	14	313

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
PHKG2	40	10	75	194	13	308
LOC130058864, PHKG2	0	0	4	0	1	5

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	25	4	37	192	12	270
Illumina Laboratory Services, Illumina	0	0	31	2	1	34
OMIM	7	0	0	0	0	7
Baylor Genetics	0	0	6	0	0	6
Mendelics	3	2	0	0	0	5
Neuberg Centre For Genomic Medicine, NCGM	1	0	4	0	0	5
Centre for Human Genetics	4	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	3	0	0	3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	1	0	0	3
3billion	2	0	1	0	0	3
Revvity Omics, Revvity	0	0	2	0	0	2
Molecular Diagnostics Laboratory, Seoul National University Hospital	1	1	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	1	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	1	0	0	0	1

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