ClinVar Miner

Variants studied for Leigh disease

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
97 63 423 132 44 4 745

Gene and significance breakdown #

Total genes and gene combinations: 49
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRPPRC 7 38 106 19 5 0 170
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
COQ2 5 2 1 0 2 0 9
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
PDSS2 2 1 2 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
COQ2, LOC112997540 0 0 2 0 1 0 3
COQ8A 0 1 2 0 0 0 3
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
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-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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 347 120 33 0 501
Counsyl 1 35 26 6 0 0 68
GeneReviews 39 0 0 0 0 0 39
Fulgent Genetics 4 1 30 0 0 0 35
Invitae 7 1 10 6 8 0 32
OMIM 23 0 0 0 0 0 23
Integrated Genetics/Laboratory Corporation of America 10 4 0 0 0 0 14
Institute of Human Genetics,Klinikum rechts der Isar 11 3 0 0 0 0 14
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 3 7 0 0 0 10
SingHealth Duke-NUS Institute of Precision Medicine 0 2 5 0 0 0 7
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
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,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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 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
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1

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