ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
10 8 4 0 5 23

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
POLG, POLGARF 10 8 4 4 22
FANCI, POLG, POLGARF 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 14
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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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 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
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
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1

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