Variants studied for Mitochondrial complex 1 deficiency, nuclear type 4

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
9	13	18	1	0	36

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	total
NDUFV1	5	7	13	1	24
LOC126861242, NDUFV1	4	6	5	0	12

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Revvity Omics, Revvity	4	1	5	0	10
Baylor Genetics	1	2	5	0	8
Neuberg Centre For Genomic Medicine, NCGM	1	3	3	0	7
OMIM	4	0	0	0	4
3billion	2	1	0	1	4
Fulgent Genetics, Fulgent Genetics	1	0	2	0	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	2	1	0	0	3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	0	2	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	1	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	1
Bruce Lefroy Centre, Murdoch Childrens Research Institute	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	1	0	0	1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	1	0	0	0	1
New York Genome Center	0	0	1	0	1
Kids Neuroscience Centre, Sydney Children's Hospitals Network	0	0	1	0	1
DASA	1	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	1	0	0	0	1

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