ClinVar Miner

Variants studied for mitochondrial neurogastrointestinal encephalomyopathy

Included ClinVar conditions (11):
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 not provided total
106 65 168 30 28 5 364

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TYMP 43 32 40 4 8 0 117
POLG 17 13 70 6 4 4 103
LOC130067862, SCO2, TYMP 30 11 24 7 6 0 69
POLG, POLGARF 1 4 15 6 0 1 27
LOC130067862, TYMP 6 2 4 1 0 0 11
LOC130067864, TYMP 7 2 3 0 1 0 9
SCO2, TYMP 0 0 5 3 1 0 7
NCAPH2, SCO2, TYMP 0 0 1 3 2 0 6
FANCI, POLG 0 0 2 0 3 0 5
LOC130067866, TYMP 0 0 4 0 0 0 4
EDAR, RANBP2 1 1 0 0 0 0 2
LOC130067861, SCO2, TYMP 0 0 0 0 2 0 2
MIR6766, POLG 0 0 0 0 1 0 1
MT-TK 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 12 6 74 10 3 0 105
GeneReviews 72 0 0 0 5 0 77
Illumina Laboratory Services, Illumina 1 0 43 6 10 0 60
Baylor Genetics 18 38 3 0 0 0 59
Natera, Inc. 6 3 27 12 7 0 55
OMIM 21 0 0 0 0 0 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 11 1 0 0 14
Genome-Nilou Lab 0 0 0 0 10 0 10
Revvity Omics, Revvity 2 5 1 0 0 0 8
Counsyl 1 2 3 1 1 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 5 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 4 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 4 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 5
Department of Pathophysiology and Transplantation, University of Milan 4 1 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 0 1 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 1 0 0 0 2
3billion 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 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 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 0 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

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