ClinVar Miner

Variants studied for Leigh syndrome

Included ClinVar conditions (12):
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
118 90 1608 423 824 5 3035

Gene and significance breakdown #

Total genes and gene combinations: 60
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MT-ND5 3 2 112 48 104 0 268
MT-CYB 1 0 121 36 94 0 252
LRPPRC 8 41 158 11 27 1 239
MT-ATP6 11 4 85 47 92 0 238
MT-ND2 2 1 61 42 51 0 157
MT-CO1 0 1 86 20 47 0 154
NDUFA10 0 0 114 11 29 0 153
MT-CO3 2 0 69 29 40 0 140
MT-ND1 5 0 54 23 52 0 133
MT-ND4 2 1 54 20 38 0 114
SDHA 2 0 61 10 20 1 93
MT-CO2 0 0 44 18 25 0 87
MT-ND6 3 1 34 16 33 0 87
COX10 0 0 47 10 25 0 82
NDUFS1 0 3 52 10 15 0 80
SURF1 21 7 38 12 11 1 79
DLD 0 0 48 5 19 0 72
COX15 0 1 62 4 3 0 70
MT-ATP8 0 0 22 7 28 0 57
NDUFV1 1 2 42 2 4 0 50
MT-ND3 5 0 17 7 12 0 41
SCO1 0 0 30 2 7 0 39
COX15, ENTPD7 0 0 28 4 3 0 35
ECHS1 18 17 3 0 0 0 33
NDUFS4 4 0 16 2 5 1 27
BCS1L 3 0 18 1 3 0 25
MT-ND4L 0 0 12 6 7 0 25
MT-ATP6, MT-ATP8 0 0 3 8 13 0 24
NDUFS8 0 3 20 0 1 0 24
NDUFS3 0 0 23 0 0 0 23
NDUFS7 0 0 17 0 2 0 19
NDUFAF2 2 0 13 1 2 0 18
COQ2 5 3 4 0 2 0 12
COX15, CUTC 0 0 10 0 2 0 12
LOC112529895, SCO1 0 0 9 1 0 0 10
GAMT, NDUFS7 0 0 0 7 0 0 7
COX10, LOC105943586 0 0 2 1 2 0 5
FOXRED1 1 0 4 0 0 0 5
PDSS2 2 0 3 0 0 0 5
ERCC8, NDUFAF2 0 0 1 1 2 0 4
COQ2, LOC112997540 0 0 2 0 1 0 3
COQ8A 0 1 2 0 0 0 3
FASTKD2 3 0 0 0 0 0 3
LOC112081413, NDUFS8 0 0 2 0 1 0 3
MT-TW 3 0 0 0 0 0 3
NDUFAF6 1 1 1 0 0 0 3
IARS2 2 0 0 0 0 0 2
MRPS34 1 1 0 0 0 0 2
MT-TK 2 0 0 0 0 0 2
MT-TV 2 0 0 0 0 0 2
NDUFS8, TCIRG1 0 0 1 1 0 0 2
​intergenic 1 0 0 0 0 0 1
APTX 0 0 1 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 1
GYG2 0 0 0 0 0 1 1
MT-CO1, MT-TS1 0 0 0 0 1 0 1
MT-TL1 1 0 0 0 0 0 1
MTFMT 1 0 0 0 0 0 1
NDUFA12 0 0 1 0 0 0 1
TIMMDC1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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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 Clinical Services Laboratory,Illumina 0 1 747 81 174 0 1003
Counsyl 1 35 26 6 0 0 68
Invitae 10 1 17 8 8 0 44
GeneReviews 41 0 0 0 0 0 41
Fulgent Genetics,Fulgent Genetics 4 1 30 0 0 0 35
Mendelics 8 10 4 1 3 0 26
OMIM 23 0 0 0 0 0 23
Institute of Human Genetics,Klinikum rechts der Isar 13 4 0 0 0 0 17
Integrated Genetics/Laboratory Corporation of America 10 4 0 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 9 0 0 0 11
Baylor Genetics 4 4 1 0 0 0 9
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 4 1 0 0 0 7
Laboratory of Metabolic Disorders, Peking University First Hospital 7 0 0 0 0 0 7
SingHealth Duke-NUS Institute of Precision Medicine 0 2 5 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Broad Institute Rare Disease Group,Broad Institute 0 1 4 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 2 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 3
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 1 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 0 3
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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Mitochondrial Research Group,Murdoch Children's Research Institute 1 0 1 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Genetics of Mitochondrial Diseases,Imagine Institute 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

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