ClinVar Miner

Variants studied for mitochondrial DNA depletion syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
93 61 127 16 20 292

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TYMP 43 37 31 0 6 108
POLG 6 4 54 4 0 68
LOC130067862, SCO2, TYMP 30 12 13 1 6 53
POLG, POLGARF 0 0 11 6 0 17
LOC130067862, TYMP 6 3 4 0 0 10
LOC130067864, TYMP 7 4 2 0 1 10
SCO2, TYMP 0 1 5 2 0 8
NCAPH2, SCO2, TYMP 0 0 1 3 2 6
FANCI, POLG 0 0 2 0 2 4
LOC130067866, TYMP 0 0 4 0 0 4
LOC130067861, SCO2, TYMP 0 0 0 0 2 2
MIR6766, POLG 0 0 0 0 1 1
MT-TK 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 11 21 72 10 3 117
GeneReviews 72 0 0 0 5 77
Illumina Laboratory Services, Illumina 1 0 43 6 10 60
Baylor Genetics 12 35 3 0 0 50
OMIM 15 0 0 0 0 15
Revvity Omics, Revvity 2 5 1 0 0 8
Counsyl 1 2 3 1 1 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 5 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 5
Department of Pathophysiology and Transplantation, University of Milan 4 1 0 0 0 5
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 0 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
New York Genome Center 0 0 1 0 0 1
Pars Genome Lab 0 0 1 0 0 1
3billion, Medical Genetics 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 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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