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
11 6 160 59 40 241

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Fanconi anemia 7 1 140 46 34 209
not specified 0 0 13 7 13 33
Fanconi anemia, complementation group I 5 4 15 0 0 24
not provided 0 1 10 7 0 18

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 1 99 36 30 173
Illumina Clinical Services Laboratory,Illumina 0 2 47 10 4 63
Genetic Services Laboratory, University of Chicago 1 0 13 6 1 21
PreventionGenetics 0 0 0 2 12 14
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 6 0 0 6
OMIM 4 0 0 0 0 4
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1

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