ClinVar Miner

Variants studied for Leigh syndrome

Coded as:
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
67 15 366 126 41 1 608

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRPPRC 0 0 83 13 5 0 101
NDUFA10 0 0 46 18 0 0 64
COX10 0 0 27 14 10 0 51
SURF1 16 6 17 10 9 0 50
SDHA 0 0 17 27 0 0 44
DLD 0 0 29 6 7 0 42
NDUFS1 0 0 25 12 0 0 37
NDUFV1 0 0 28 3 0 0 31
SCO1 0 0 16 5 2 0 23
NDUFS8 0 3 15 0 1 0 19
NDUFS4 4 0 7 2 3 0 16
BCS1L 1 0 11 3 0 0 15
NDUFAF2 2 0 10 0 0 0 12
NDUFS3 0 0 12 0 0 0 12
NDUFS7 0 0 9 2 0 0 11
MT-ATP6 9 0 0 0 0 0 9
GAMT, NDUFS7 0 0 0 7 0 0 7
LOC112529895, SCO1 0 0 4 1 0 0 5
MT-ND3 5 0 0 0 0 0 5
ERCC8, NDUFAF2 0 0 1 1 2 0 4
MT-ND1 4 0 0 0 0 0 4
MT-ND4 2 0 2 0 0 0 4
COX10, LOC105943586 0 0 1 1 1 0 3
COX15 0 2 1 0 0 0 3
MT-ND5 3 0 0 0 0 0 3
MT-ND6 3 0 0 0 0 0 3
MT-TW 3 0 0 0 0 0 3
ECHS1 0 2 0 0 0 0 2
FOXRED1 1 0 1 0 0 0 2
IARS2 2 0 0 0 0 0 2
LOC112081413, NDUFS8 0 0 2 0 0 0 2
MRPS34 1 1 0 0 0 0 2
MT-CO3 2 0 0 0 0 0 2
MT-TK 2 0 0 0 0 0 2
MT-TV 2 0 0 0 0 0 2
NDUFAF6 1 1 0 0 0 0 2
NDUFS8, TCIRG1 0 0 1 1 0 0 2
​intergenic 1 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 1
GYG2 0 0 0 0 0 1 1
MT-ND2 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 1
MTFMT 1 0 0 0 0 0 1
TIMMDC1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 346 120 33 0 500
GeneReviews 37 0 0 0 0 0 37
Invitae 7 1 10 6 8 0 32
Integrated Genetics/Laboratory Corporation of America 10 3 0 0 0 0 13
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 7 0 0 0 9
Institute of Human Genetics,Klinikum rechts der Isar 4 1 0 0 0 0 5
Laboratory of Metabolic Disorders,Peking University First Hospital 4 0 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 1 2 0 0 0 3
Fulgent Genetics 0 1 1 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
Foundation for Research in Genetics and Endocrinology,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
Mitochondrial Research Group,Murdoch Children's Research Institute 1 0 1 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
The Institute for Molecular Bioscience,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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genetics of Mitochondrial Diseases,Imagine Institute 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1

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