ClinVar Miner

Variants in gene ACO2

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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
45 24 257 224 34 4 556

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 31 13 227 216 31 1 508
Infantile cerebellar-retinal degeneration 7 5 11 1 6 0 30
not specified 0 0 1 20 11 0 27
Inborn genetic diseases 0 2 23 0 0 0 25
Optic atrophy 9 2 3 7 0 7 0 19
ACO2-related disorder 0 1 5 5 0 2 13
Infantile cerebellar-retinal degeneration; Optic atrophy 9 0 0 3 3 0 1 6
Optic atrophy 2 0 4 0 0 0 6
Retinal dystrophy 1 0 5 0 0 0 6
Global developmental delay; Progressive microcephaly; Neurodegeneration; Central hypoventilation; Brain atrophy 0 0 4 0 0 0 4
Mitochondrial disease 0 0 3 0 0 0 3
OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE 2 0 0 0 0 0 2
Acute intermittent porphyria 1 0 0 0 0 0 1
Isolated macular dystrophy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 29 10 200 202 16 0 457
GeneDx 3 2 29 31 24 0 89
Ambry Genetics 0 2 23 0 0 0 25
CeGaT Center for Human Genetics Tuebingen 1 0 15 9 0 0 25
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 12 0 19
PreventionGenetics, part of Exact Sciences 0 0 5 7 4 0 16
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 3 0 8 0 0 0 11
OMIM 10 0 0 0 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 1 2 0 9
Genome-Nilou Lab 0 0 0 0 7 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 1 3 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 3 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 0 0 4
Clinical Genetics, Academic Medical Center 0 0 0 0 3 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 2 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 2 0 3
DBGen Ocular Genomics 1 1 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Mendelics 0 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
3billion 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1

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