ClinVar Miner

Variants in gene FANCI

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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 total
40 13 351 119 44 528

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Fanconi anemia 18 5 265 81 37 406
Fanconi anemia, complementation group I 26 5 107 6 22 163
not provided 2 2 9 40 0 53
not specified 0 0 13 6 16 35
Fanconi anemia, complementation group A 0 1 1 3 0 5
Microcephaly 0 0 2 0 0 2
Malignant tumor of breast 0 0 1 0 0 1
Neoplasm of stomach 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 18 5 262 103 37 425
Illumina Clinical Services Laboratory,Illumina 0 2 89 6 22 119
Leiden Open Variation Database 24 1 2 0 0 27
Genetic Services Laboratory, University of Chicago 1 0 13 5 2 21
PreventionGenetics, PreventionGenetics 0 0 0 2 12 14
Baylor Genetics 0 1 12 0 0 13
Fulgent Genetics,Fulgent Genetics 0 0 12 0 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 7 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 6 6
GeneDx 0 0 5 1 0 6
Mendelics 0 1 1 3 0 5
OMIM 4 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 1 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 1 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 1

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