Variants studied for Combined oxidative phosphorylation defect type 23

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
9	9	13	1	5	1	35

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GTPBP3	9	9	13	1	5	1	35

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
OMIM	6	0	0	0	0	0	6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	3	0	0	0	0	4
Genome-Nilou Lab	0	0	0	0	4	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	3	0	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	3	0	0	0	3
Baylor Genetics	0	0	2	0	0	0	2
Revvity Omics, Revvity	1	0	1	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	2	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	1	0	2
Pediatric Department, Xiangya Hospital, Central South University	1	1	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	2	0	0	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	0	0	0	0	1
Igenomix - Part of Vitrolife Group, Igenomix	0	1	0	0	0	0	1

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