ClinVar Miner

Variants studied for Leigh syndrome

Included ClinVar conditions (11):
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 not provided total
177 286 1850 790 847 45 3922

Gene and significance breakdown #

Total genes and gene combinations: 87
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SURF1 92 19 175 312 13 1 589
LRPPRC 11 191 217 43 46 2 488
MT-ND5 3 3 112 48 104 3 269
MT-CYB 1 0 121 36 94 1 253
MT-ATP6 6 4 86 47 92 9 238
MT-ND2 1 1 61 42 51 1 157
MT-CO1 0 1 86 20 47 0 154
NDUFA10 0 0 115 11 29 0 154
MT-CO3 0 0 69 29 40 2 140
MT-ND1 1 1 54 23 52 4 134
MT-ND4 0 1 54 20 38 2 114
SDHA 1 1 59 10 20 1 92
MT-CO2 0 0 45 18 25 0 88
MT-ND6 1 1 34 16 33 2 86
COX10 0 0 50 10 24 0 84
COX15 3 1 62 4 3 0 73
DLD 0 0 48 5 19 0 72
NDUFS1 0 3 45 9 13 0 70
MT-ATP8 0 0 22 8 28 0 58
LOC130002899, SURF1 4 6 11 31 2 0 52
MT-ND3 4 1 17 7 12 4 41
NDUFV1 5 7 27 1 2 0 41
COX15, ENTPD7 0 0 28 4 3 0 35
SCO1 0 0 28 1 6 0 35
NDUFAF5 1 9 19 1 3 0 32
NDUFS4 9 4 10 1 3 1 27
MT-ND4L 0 0 12 6 7 0 25
NDUFS8 0 3 21 0 1 0 25
MT-ATP6, MT-ATP8 0 0 3 8 13 0 24
NDUFS3 0 0 23 0 0 0 23
BCS1L 2 1 15 1 3 0 22
NDUFAF2 4 2 13 1 2 0 22
NDUFS7 1 1 18 0 2 0 22
LOC126861242, NDUFV1 3 2 11 0 1 0 17
LOC112529895, SCO1 0 0 11 2 1 0 14
COX15, CUTC 0 0 10 0 2 0 12
FOXRED1 4 2 5 0 0 0 11
LOC129935473, NDUFS1 0 0 7 1 2 0 10
LOC129993885, NDUFS4 0 0 7 1 2 0 10
FBXL4 2 5 0 0 0 0 7
GAMT, NDUFS7 0 0 0 7 0 0 7
LOC129388857, LRPPRC 0 2 3 2 0 0 7
LOC130006217, NDUFV1 0 1 4 1 1 0 7
NDUFAF6 2 1 3 0 0 0 6
COX10, LOC105943586 0 0 2 1 2 0 5
LOC130065433, NDUFAF5 0 1 3 0 0 1 5
ERCC8, NDUFAF2 0 0 1 1 2 0 4
IARS2 2 1 1 0 0 0 4
LOC112081413, NDUFS8 0 0 2 0 1 0 3
LOC113788297, NDUFAF6 0 0 3 0 0 0 3
MRPL39 1 3 0 0 0 0 3
MT-TW 1 0 0 0 0 3 3
BCS1L, LOC129935609 0 0 2 0 0 0 2
COX15, LOC130004506 0 1 1 0 0 0 2
ECHS1, LOC130005023 0 2 0 0 0 0 2
FASTKD2, LOC126806484 2 0 0 0 0 0 2
MT-TK 1 0 0 0 0 2 2
MT-TV 0 0 0 0 0 2 2
NDUFA12 0 0 2 0 0 0 2
NDUFA9 0 0 2 0 0 0 2
NDUFS8, TCIRG1 0 0 1 1 0 0 2
VPS13D 0 1 1 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, FCN1, FCN2, FUT7, GBGT1, GFI1B, GLT6D1, GPSM1, GRIN1, GTF3C4, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5 0 0 1 0 0 0 1
ATP5PO, LOC126653351 0 1 0 0 0 0 1
COX10, COX10-DT 0 0 1 0 0 0 1
COX10, LOC130060303 0 0 0 0 1 0 1
DLD, LAMB1 0 0 0 0 1 0 1
ECHS1 0 1 0 0 0 0 1
EME2, LOC130058184, MRPS34 0 1 0 0 0 0 1
FASTKD2 1 0 0 0 0 0 1
FOXRED1, LOC130007026 0 0 1 0 0 0 1
GYG2 0 0 0 0 0 1 1
HTRA2 0 0 1 0 0 0 1
HTRA2, LOXL3 0 0 1 0 0 0 1
LOC125371495, NDUFA13 1 0 0 0 0 0 1
LOC130058183, MRPS34 1 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 1 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 0 0 0 0 0 1
MT-CO1, MT-TS1 0 0 0 0 1 0 1
MT-ND5, MT-ND6 1 0 0 0 0 1 1
MT-TL1 0 0 0 0 0 1 1
MTFMT 1 0 0 0 0 0 1
NDUFA13 1 0 0 0 0 0 1
NDUFA2, TMCO6 0 0 1 0 0 0 1
PYROXD2 0 0 1 0 0 0 1
TIMMDC1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 15 10 772 327 637 0 1761
Illumina Laboratory Services, Illumina 0 1 747 81 174 0 1003
Labcorp Genetics (formerly Invitae), Labcorp 88 10 169 339 12 0 618
Baylor Genetics 7 90 38 0 0 0 135
Natera, Inc. 1 1 64 33 13 0 112
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 50 47 0 0 0 0 97
Fulgent Genetics, Fulgent Genetics 2 31 32 5 1 0 71
Counsyl 1 35 26 6 0 0 68
Myriad Genetics, Inc. 0 54 0 0 0 0 54
GeneReviews 1 0 0 0 0 36 37
Genome-Nilou Lab 0 0 2 1 23 0 26
Revvity Omics, Revvity 1 2 15 0 0 0 18
Mendelics 3 5 4 1 3 0 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 6 0 0 0 10
OMIM 9 0 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Laboratory of Metabolic Disorders, Peking University First Hospital 7 0 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 1 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 2 0 1 0 6
New York Genome Center 0 0 6 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 3 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 1 0 0 0 5
Mitochondrial Research Group, Murdoch Children's Research Institute 2 2 1 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
3billion, Medical Genetics 4 0 0 1 0 0 5
Pediatric Department, Xiangya Hospital, Central South University 2 1 2 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 3 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 2 0 0 0 4
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University 2 0 0 1 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Samuels research lab, Centre de Recherche du CHU Ste-Justine 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Simons Lab, The University of Queensland 1 0 0 0 0 0 1
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Genetics of Mitochondrial Diseases, Imagine Institute 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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