Variants studied for Combined oxidative phosphorylation defect type 21

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
12	22	16	1	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	total
TARS2	12	22	16	1	1	35

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Houlden Lab, UCL Institute of Neurology	1	12	4	0	0	17
OMIM	12	0	0	0	0	12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	1	7	0	0	0	8
Baylor Genetics	0	0	5	0	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	3	0	0	4
Revvity Omics, Revvity	0	1	2	0	0	3
Undiagnosed Diseases Network, NIH	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1

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