ClinVar Miner

Variants in gene combination FANCI, POLG

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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
3 0 39 24 17 1 60

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic uncertain significance likely benign benign not provided total
POLG-Related Spectrum Disorders 0 15 8 2 0 25
Progressive sclerosing poliodystrophy 1 12 7 6 0 25
Fanconi anemia 1 12 5 5 0 23
Fanconi anemia, complementation group I 1 13 1 8 0 23
not provided 0 8 5 8 0 20
not specified 0 3 7 9 0 15
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 2 1 0 0 3
Seizures 0 0 0 3 0 3
Mitochondrial diseases 0 0 0 2 0 2
Association with valproate-induced liver toxicity 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 18 11 10 0 29
Invitae 1 14 4 4 0 23
GeneDx 0 3 5 10 0 18
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 1 4 6 6 0 17
Athena Diagnostics Inc 0 3 1 3 0 7
PreventionGenetics,PreventionGenetics 0 0 1 6 0 7
Genetic Services Laboratory, University of Chicago 0 2 3 1 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 4 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 4 0 4
Fulgent Genetics,Fulgent Genetics 0 3 1 0 0 4
Ambry Genetics 0 0 0 3 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 2 0 3
GeneReviews 0 0 0 2 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 1
Lineagen, Inc 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Leiden Open Variation Database 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 1 1

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