Variants studied for Combined oxidative phosphorylation defect type 13

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
14	13	12	0	6	42

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
PNPT1	14	13	12	6	42

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	12	0	0	0	12
Baylor Genetics	0	4	7	0	11
Genome-Nilou Lab	0	0	0	6	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	3	2	0	0	5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	2	0	3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	2	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	2	0	0	2
3billion	0	2	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	1
Mendelics	0	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	1

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