Variants studied for Glycogen storage disease IXc

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	total
15	3	49	4	9	70

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	total
PHKG2	15	3	49	4	9	70

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	6	0	20	2	8	36
Illumina Clinical Services Laboratory,Illumina	0	0	31	2	1	34
OMIM	7	0	0	0	0	7
Molecular Diagnostics Laboratory,Seoul National University Hospital	1	1	0	0	0	2
Mendelics	1	1	0	0	0	2
Department of Genetics,Sultan Qaboos University Hospital, Oman	0	1	0	0	0	1

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