Variants studied for Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b

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	not provided	total
3	3	12	1	0	2	21

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	not provided	total
POLG	3	3	10	1	1	18
POLG, POLGARF	0	0	2	0	1	3

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	not provided	total
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	1	11	1	0	14
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	2	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	2	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	2	0	0	0	2
New York Genome Center	0	0	1	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	1	0	0	0	0	1

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