Variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

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
11	8	6	0	6	27

Gene and significance breakdown #

Total genes and gene combinations: 3

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
POLG	10	7	5	4	22
POLG, POLGARF	1	1	1	1	4
FANCI, POLG	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 16

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	8	0	0	0	8
MGZ Medical Genetics Center	2	2	1	0	5
Genome-Nilou Lab	0	0	0	5	5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	4	0	0	0	4
Baylor Genetics	0	1	2	0	3
Genetics and Molecular Pathology, SA Pathology	1	1	1	0	3
3billion	0	3	0	0	3
Centogene AG - the Rare Disease Company	1	1	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	0	1	0	2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	2	0	0	0	2
Molecular Genetics, Royal Melbourne Hospital	1	0	0	1	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	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.