ClinVar Miner

Variants studied for Mitochondrial DNA depletion syndrome 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
85 36 60 6 17 186

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TYMP 42 24 31 0 6 95
LOC130067862, SCO2, TYMP 29 8 12 1 6 50
LOC130067862, TYMP 5 2 4 0 0 10
LOC130067864, TYMP 7 1 2 0 1 8
SCO2, TYMP 0 0 5 2 0 7
NCAPH2, SCO2, TYMP 0 0 1 3 2 6
LOC130067866, TYMP 0 0 4 0 0 4
POLG, POLGARF 1 1 1 0 0 3
LOC130067861, SCO2, TYMP 0 0 0 0 2 2
MT-TK 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneReviews 72 0 0 0 5 77
Illumina Laboratory Services, Illumina 1 0 43 6 10 60
Baylor Genetics 9 26 3 0 0 38
OMIM 15 0 0 0 0 15
Fulgent Genetics, Fulgent Genetics 3 3 6 0 0 12
Revvity Omics, Revvity 2 5 1 0 0 8
Counsyl 1 2 3 1 1 8
Genome-Nilou Lab 0 0 0 0 5 5
Department of Pathophysiology and Transplantation, University of Milan 4 1 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 3 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 1
3billion 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1

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