ClinVar Miner

Variants studied for Fanconi anemia complementation group I

Coded as:
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
32 92 227 48 41 2 415

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FANCI 31 92 211 46 33 2 389
FANCI, POLG, POLGARF 1 0 16 1 6 0 24
FANCI, POLG 0 0 0 1 2 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 3 9 124 39 3 0 178
Illumina Laboratory Services, Illumina 0 2 98 7 30 0 137
Baylor Genetics 10 84 20 0 0 0 114
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 27 0 30
Leiden Open Variation Database 24 0 2 0 0 0 26
Genome-Nilou Lab 0 0 0 0 9 0 9
Revvity Omics, Revvity 2 0 5 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 1 0 6
OMIM 4 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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