Variants studied for Mitochondrial DNA depletion syndrome 4b

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
10	5	7	2	5	26

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
POLG	9	4	6	1	4	21
POLG, POLGARF	1	1	1	1	0	4
FANCI, POLG	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	6	0	0	0	0	6
Genome-Nilou Lab	0	0	0	0	5	5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	2	2	0	0	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	0	1	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	1	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	1	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	0	2	0	0	2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	0	1	1	0	2
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	1
3billion	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	1

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