ClinVar Miner

Variants studied for Leigh syndrome

Included ClinVar conditions (9):
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
83 21 392 126 41 4 655

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
SDHA 1 0 34 27 0 1 63
COX10 0 0 30 14 10 0 54
SURF1 16 6 17 10 9 1 51
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
ECHS1 13 8 2 0 0 0 20
NDUFS8 0 3 15 0 1 0 19
BCS1L 3 0 11 3 0 0 17
NDUFS4 4 0 8 2 3 1 17
NDUFS3 0 0 13 0 0 0 13
NDUFAF2 2 0 10 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
FOXRED1 1 0 3 0 0 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
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: 29
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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
Fulgent Genetics 4 1 25 0 0 0 30
Integrated Genetics/Laboratory Corporation of America 10 3 0 0 0 0 13
Institute of Human Genetics,Klinikum rechts der Isar 10 3 0 0 0 0 13
OMIM 9 0 0 0 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 7 0 0 0 9
Laboratory of Metabolic Disorders,Peking University First Hospital 4 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 3 0 0 0 0 3
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 1 2 0 0 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
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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 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
Counsyl 0 0 1 0 0 0 1
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
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
Genetics of Mitochondrial Diseases,Imagine Institute 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1

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