Variants studied for Mitochondrial complex 1 deficiency, nuclear 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	9	13	2	2	32

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	total
NUBPL	11	9	13	2	2	31
DTD2, GPR33, HEATR5A, NUBPL	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	9	0	0	0	0	9
Revvity Omics, Revvity	1	1	4	0	0	6
Undiagnosed Diseases Network, NIH	2	1	3	0	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	1	0	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	2	1	0	0	3
Department of Pathology and Laboratory Medicine, Sinai Health System	1	0	1	1	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	2	0	0	0	2
Zeviani Lab, University of Cambridge	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	1	0	0	0	1
Mendelics	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	1	0	0	0	1
3billion	0	0	0	1	0	1

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