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
13	3	10	0	0	26

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
PHKG2	13	3	10	26

Submitter and significance breakdown #

Total submitters: 5

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	total
Invitae	4	0	10	14
OMIM	7	0	0	7
Molecular Diagnostics Laboratory,Seoul National University Hospital	1	1	0	2
Mendelics	1	1	0	2
Department of Genetics,Sultan Qaboos University Hospital, Oman	0	1	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.