Variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 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
9	7	12	0	5	33

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
POLG, POLGARF	8	7	12	4	31
FANCI, POLG, POLGARF	0	0	0	1	1
TWNK	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Genome-Nilou Lab	0	0	0	5	5
OMIM	3	0	1	0	4
Mendelics	1	2	0	0	3
Baylor Genetics	2	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	2	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	1	1	0	0	2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	1	1	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	1
MGZ Medical Genetics Center	0	0	1	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	1
3billion	0	0	1	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	0	1
Human Genetics Bochum, Ruhr University Bochum	0	0	1	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	1

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