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
13 7 188 100 41 310

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Fanconi anemia 9 1 168 23 4 205
not provided 0 1 10 69 35 107
not specified 0 0 13 7 13 33
Fanconi anemia, complementation group I 5 4 15 0 0 24
Fanconi anemia, complementation group A 0 1 1 3 0 5
breast cancer 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 1 128 75 35 248
Illumina Clinical Services Laboratory,Illumina 0 2 47 10 4 63
Genetic Services Laboratory, University of Chicago 1 0 13 6 1 21
PreventionGenetics,PreventionGenetics 0 0 0 2 12 14
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 6 0 0 6
Mendelics 0 1 1 3 0 5
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
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 1

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