Variants studied for Combined oxidative phosphorylation defect type 8

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
13	8	97	7	34	2	158

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	benign	not provided	total
AARS2, POLR1C	13	8	97	7	34	1	157
AARS2	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	88	7	28	0	123
Baylor Genetics	1	2	9	0	0	0	12
Genome-Nilou Lab	0	0	0	0	9	0	9
Mendelics	4	1	0	0	1	0	6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	3	3	0	0	0	0	6
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	2	1	0	0	0	4
OMIM	3	0	0	0	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Institute of Human Genetics, Heidelberg University	2	0	0	0	0	0	2
Istanbul Faculty of Medicine, Istanbul University	2	0	0	0	0	0	2
3billion	1	0	1	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	1	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	1	0	0	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	1	0	0	0	0	1

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