Variants studied for Mitochondrial complex 1 deficiency, nuclear type 2

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
8	4	8	0	2	21

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
NDUFS8	8	4	8	2	21

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	7	0	0	0	7
Revvity Omics, Revvity	0	0	2	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	1	1	0	2
Genome-Nilou Lab	0	0	0	2	2
Baylor Genetics	0	0	1	0	1
MGZ Medical Genetics Center	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	1	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	1

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