ClinVar Miner

Variants in gene combination FANCI, POLG

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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
8 3 87 77 20 2 168

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Progressive sclerosing poliodystrophy 3 1 40 37 6 0 85
Fanconi anemia 4 1 23 27 8 0 62
not provided 1 2 22 18 13 1 47
Fanconi anemia complementation group I 1 0 20 2 8 0 30
POLG-Related Spectrum Disorders 0 0 15 8 2 0 25
not specified 0 0 6 6 10 0 17
Inborn genetic diseases 0 0 3 1 3 0 7
POLG-related disorder 0 0 1 6 0 0 7
Hereditary spastic paraplegia 0 0 1 0 3 0 4
Mitochondrial disease 0 0 3 0 1 0 4
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 0 2 0 2 0 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 0 0 0 2 0 2
Association with valproate-induced liver toxicity 0 0 0 0 0 1 1
Mitochondrial DNA depletion syndrome 4b 0 0 0 0 1 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 0 0 0 0 1 0 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5 1 54 55 10 0 125
GeneDx 0 1 12 8 16 0 37
Illumina Laboratory Services, Illumina 0 0 18 11 10 0 29
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 1 0 4 7 6 0 18
PreventionGenetics, part of Exact Sciences 0 0 1 7 6 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 1 9 4 0 14
Fulgent Genetics, Fulgent Genetics 0 0 10 0 2 0 12
Athena Diagnostics 0 0 4 1 4 0 9
Genetic Services Laboratory, University of Chicago 0 0 3 3 1 0 7
Ambry Genetics 0 0 3 1 3 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 1 2 0 7
CeGaT Center for Human Genetics Tuebingen 0 1 2 3 1 0 7
Eurofins Ntd Llc (ga) 0 0 2 0 4 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 5 0 5
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 1 0 3 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 1 1 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 4 0 4
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 0 0 3 0 1 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 2 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 3 0 3
Baylor Genetics 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 1 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 2 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 1 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Leiden Open Variation Database 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1

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