ClinVar Miner

Variants studied for Leigh syndrome

Coded as:
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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
184 110 1586 740 797 42 3416

Gene and significance breakdown #

Total genes and gene combinations: 92
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SURF1 99 26 177 321 13 0 618
MT-ND5 3 3 112 48 104 3 269
MT-CYB 1 0 121 36 94 0 252
MT-ATP6 6 4 87 47 92 9 239
MT-ND2 1 1 61 42 51 1 157
MT-CO1 0 1 86 20 47 0 154
NDUFA10 0 0 109 9 29 0 146
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
MT-CO2 0 0 45 18 25 0 88
MT-ND6 1 1 34 16 33 2 86
SDHA 2 1 43 9 20 0 75
COX15 3 1 62 4 3 0 73
COX10 0 0 43 8 21 0 72
DLD 0 0 46 5 19 0 70
NDUFS1 0 5 39 8 13 0 65
MT-ATP8 0 0 22 8 28 0 58
LOC130002899, SURF1 4 6 10 34 2 0 55
MT-ND3 4 1 17 7 12 4 41
NDUFV1 7 6 26 1 2 0 41
COX15, ENTPD7 0 0 28 4 3 0 35
NDUFAF5 3 8 19 1 3 0 34
SCO1 0 0 27 1 6 0 34
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
NDUFS4 10 4 8 0 3 0 24
NDUFS7 1 3 17 0 2 0 23
BCS1L 1 1 15 1 3 0 21
NDUFAF2 5 2 9 1 3 0 20
NDUFS3 0 0 20 0 0 0 20
LOC126861242, NDUFV1 3 2 9 0 1 0 15
COX15, CUTC 0 0 10 0 2 0 12
LOC112529895, SCO1 0 0 9 1 1 0 11
FOXRED1 4 3 3 0 0 0 10
LOC129935473, NDUFS1 0 0 7 1 2 0 10
LOC129993885, NDUFS4 0 0 7 1 2 0 10
FBXL4 3 5 0 0 0 0 8
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
FASTKD5, UBOX5 5 0 0 0 0 0 5
IARS2 2 2 1 0 0 0 5
LOC130065433, NDUFAF5 0 1 3 0 0 1 5
LRPPRC 0 0 4 0 0 0 4
DLAT 0 0 3 0 0 0 3
LOC113788297, NDUFAF6 0 0 3 0 0 0 3
MRPL39 1 3 0 0 0 0 3
MT-TW 0 0 0 0 0 3 3
MTFMT 1 0 2 0 0 0 3
NDUFA12 0 0 2 0 0 1 3
NDUFA9 0 0 3 0 0 0 3
BCS1L, LOC129935609 0 0 2 0 0 0 2
COQ9 0 0 1 0 1 0 2
COX15, LOC130004506 0 1 1 0 0 0 2
DLAT, PIH1D2 0 0 2 0 0 0 2
ECHS1, LOC130005023 0 2 0 0 0 0 2
FASTKD2, LOC126806484 2 0 0 0 0 0 2
KGD4 1 1 0 0 0 0 2
LIPT1, MITD1 0 2 0 0 0 0 2
MT-TK 1 0 0 0 0 2 2
MT-TV 0 0 0 0 0 2 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, LOC130060303 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
FARS2 1 0 0 0 0 0 1
FARS2, LOC126859565 0 1 0 0 0 0 1
FASTKD2 1 0 0 0 0 0 1
FOXRED1, LOC130007026 0 0 1 0 0 0 1
GFM1 0 1 0 0 0 0 1
GFM2 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
LOC112081413, NDUFS8 0 0 0 0 1 0 1
LOC130057309, MTFMT 0 1 0 0 0 0 1
LOC130058183, MRPS34 0 0 0 0 0 1 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
NDUFA2, TMCO6 0 0 1 0 0 0 1
PYROXD2 0 0 1 0 0 0 1
SERAC1 0 0 1 0 0 0 1
TIMMDC1 0 0 0 0 0 1 1
TPK1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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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 1 565 54 142 0 762
Labcorp Genetics (formerly Invitae), Labcorp 94 17 171 355 12 0 649
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 57 42 0 0 0 0 99
GeneReviews 1 0 0 0 0 36 37
Baylor Genetics 1 3 28 0 0 0 32
Department of Pathology and Laboratory Medicine, Sinai Health System 4 4 14 1 4 0 27
Natera, Inc. 0 0 22 1 3 0 26
Mendelics 3 5 4 1 3 0 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 6 0 0 0 10
Laboratory of Metabolic Disorders, Peking University First Hospital 7 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 2 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 2 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 4 1 0 0 0 0 5
Mitochondrial Research Group, Murdoch Children's Research Institute 1 2 0 0 0 2 5
Pediatric Department, Xiangya Hospital, Central South University 2 1 2 0 0 0 5
Shoubridge Laboratory, McGill University 5 0 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
3billion 4 0 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 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
Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University 2 0 0 1 0 0 3
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 0 2 0 0 0 0 2
Department of Neurology, Beijing Children's Hospital, Capital Medical University 1 1 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
Fulgent Genetics, Fulgent Genetics 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 2 0 0 0 2
Keimyung University Dongsan Hospital, Keimyung University School of Medicine 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
New York Genome Center 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
Breda Genetics srl, Breda Genetics srl 1 0 0 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
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics of Mitochondrial Diseases, Imagine Institute 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 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
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 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
OMIM 1 0 0 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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 0 1
Wendy Chung Laboratory, Boston Children's Hospital 0 1 0 0 0 0 1

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