Variants studied for Mitochondrial DNA depletion syndrome, myopathic form

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	not provided	total
17	9	73	7	16	5	122

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	not provided	total
TK2	16	9	70	6	15	5	117
LOC130059156, TK2	1	0	3	1	1	0	5

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	1	0	68	7	15	0	91
GeneReviews	2	0	0	0	0	5	7
OMIM	6	0	0	0	0	0	6
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	4	0	0	0	0	4
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University	2	2	0	0	0	0	4
Neuberg Centre For Genomic Medicine, NCGM	1	2	1	0	0	0	4
Baylor Genetics	3	0	0	0	0	0	3
Mendelics	3	0	0	0	0	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	0	0	0	0	0	2
3billion	2	0	0	0	0	0	2
Pediatrics, Sichuan Provincial Hospital For Women And Children	1	0	1	0	0	0	2
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	1	0	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	0	1
Institute of Human Genetics, Heidelberg University	0	1	0	0	0	0	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	1	0	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	0	1

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