ClinVar Miner

Variants studied for mitochondrial DNA depletion syndrome

Included ClinVar conditions (56):
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
554 395 2242 1442 245 29 4606

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POLG 165 120 804 771 55 6 1787
POLG, POLGARF 54 57 272 245 18 1 627
FBXL4 36 48 335 2 7 0 412
AGK 32 14 119 96 23 0 268
SUCLA2 18 11 133 102 17 2 266
SUCLG1 21 9 122 107 14 0 250
TK2 22 12 78 6 15 5 131
RRM2B 12 15 66 16 23 0 126
TYMP 42 32 31 0 6 0 102
TWNK 10 10 66 11 7 4 100
MPV17 25 24 39 7 4 6 89
FANCI, POLG 3 0 36 32 6 0 76
DGUOK 16 7 25 3 3 0 52
LOC130067862, SCO2, TYMP 30 10 12 1 6 0 51
SLC25A4 7 1 19 1 0 0 28
AFG3L2 10 3 9 0 4 1 24
DNA2 5 3 8 5 3 1 24
LOC130009747, SUCLA2 0 0 10 10 4 0 23
MIR6766, POLG 0 0 0 14 1 0 15
OPA1 1 1 5 0 4 0 11
LIG3 8 1 1 0 0 0 10
LOC130067862, TYMP 6 2 4 0 0 0 10
DGUOK, LOC129934096 1 1 5 1 1 1 8
LOC130067864, TYMP 7 2 2 0 1 0 8
MILR1, POLG2 1 0 3 0 3 0 7
SCO2, TYMP 0 0 5 2 0 0 7
LOC126862983, MGME1 2 1 2 1 1 0 6
LOC130000897, RRM2B 0 0 2 0 4 0 6
LOC130059156, TK2 1 1 3 1 1 0 6
MGME1 1 1 2 1 0 1 6
NCAPH2, SCO2, TYMP 0 0 1 3 2 0 6
SLC25A21 2 0 1 0 3 0 6
LOC129934178, SUCLG1 0 0 4 1 0 0 5
AFG3L2, TUBB6 0 0 3 0 1 0 4
LOC130067866, TYMP 0 0 4 0 0 0 4
SLC25A10 2 1 1 0 1 0 4
TFAM 1 2 2 0 0 0 4
LOC130000896, RRM2B 1 2 1 0 0 0 3
MIR6766, POLG, POLGARF 0 1 0 2 0 0 3
MRM2 3 0 0 0 0 0 3
EDAR, RANBP2 1 1 0 0 0 0 2
FANCI, POLG, POLGARF 0 1 0 1 0 0 2
ITM2B, LPAR6, MED4, NUDT15, RB1, RCBTB2, SUCLA2 1 0 1 0 0 0 2
LOC126806913, OPA1 1 0 0 0 1 0 2
LOC130067861, SCO2, TYMP 0 0 0 0 2 0 2
AGK, AGK-DT 0 0 1 0 0 0 1
AGK, AGK-DT, LOC129999511 0 0 1 0 0 0 1
AGK, BRAF, CLEC5A, DENND11, MGAM, MRPS33, OR9A4, PRSS37, SSBP1, TAS2R3, TAS2R38, TAS2R4, TAS2R5, TMEM178B, WEE2 1 0 0 0 0 0 1
ATXN8, ATXN8OS 1 0 0 0 0 0 1
ATXN8, ATXN8OS, LOC109461478 0 0 0 0 1 0 1
ATXN8OS 0 1 0 0 0 0 1
CLCNKB, LOC106501713 0 0 0 0 1 0 1
EDNRB 0 0 0 0 1 0 1
LOC129933372, MPV17 0 0 1 0 0 0 1
LOC129993501, SLC25A4 0 0 1 0 0 0 1
LOC130057874, MIR6766, POLG, POLGARF 0 0 1 0 0 0 1
MPV17, UCN 1 0 0 0 0 0 1
MT-TK 1 0 0 0 0 0 1
PITRM1 1 0 0 0 0 0 1
POLG, POLG-DT 0 0 0 0 1 0 1
POLG, RLBP1 1 0 0 0 0 0 1
POLRMT 0 0 1 0 0 0 1
SUCLG2 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 119
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 206 80 1318 1277 96 0 2977
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 100 73 406 158 60 0 797
Illumina Laboratory Services, Illumina 2 2 411 50 88 0 550
Baylor Genetics 81 112 55 0 0 0 247
Fulgent Genetics, Fulgent Genetics 19 18 112 28 7 0 184
OMIM 122 0 0 0 1 0 123
GeneReviews 75 0 0 0 5 14 94
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 34 16 0 0 0 0 50
Revvity Omics, Revvity 4 9 23 0 0 0 36
Mendelics 16 7 2 4 6 0 35
Genome-Nilou Lab 0 0 0 0 35 0 35
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 8 11 1 0 0 26
3billion 11 2 9 3 0 0 25
Neuberg Centre For Genomic Medicine, NCGM 1 10 14 0 0 0 25
SIB Swiss Institute of Bioinformatics 2 13 6 0 0 0 21
Natera, Inc. 6 3 4 5 2 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 3 7 0 0 0 18
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 12 6 0 0 0 0 18
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 11 1 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 12 1 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 4 2 7 0 0 0 13
MGZ Medical Genetics Center 6 2 4 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 3 4 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 10 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 7 0 8
Counsyl 1 2 3 1 1 0 8
Genomics England Pilot Project, Genomics England 2 6 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 1 1 4 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 2 1 0 0 6
Undiagnosed Diseases Network, NIH 2 1 3 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 3 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 1 0 2 0 6
New York Genome Center 0 1 5 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 3 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 1 1 0 0 0 5
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 4 0 0 0 0 5
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 2 3 0 0 0 0 5
Department of Pathophysiology and Transplantation, University of Milan 4 1 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 1 0 0 0 5
Breakthrough Genomics, Breakthrough Genomics 3 2 0 0 0 0 5
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 4 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 1 2 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 3 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 2 2 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 2 0 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 2 0 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 3 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 2 1 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 2 0 0 0 3
Department of Heart Center, Qingdao Women and Children's Hospital 1 2 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 2 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
King Laboratory, University of Washington 1 1 0 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 1 1 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 0 2 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Centre for Translational Omics - GOSgene, University College London 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 1 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 1 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 2
Human Genetics Section, Sidra Medicine 0 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 1 0 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 1 0 0 0 2
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Suma Genomics, Suma Genomics 0 2 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 1 0 0 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 1 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Inherited Metabolic Diseases Molecular Laboratory, University of Cape Town / National Health Laboratory Services 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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