ClinVar Miner

Variants in gene combination FANCD2, LOC107303338

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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
9 5 63 46 43 13 140

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 5 1 52 33 29 0 105
not specified 0 0 10 12 30 13 56
not provided 1 2 4 3 3 0 13
Fanconi anemia, complementation group D2 3 2 4 1 2 0 11

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 1 29 25 23 0 83
Illumina Clinical Services Laboratory,Illumina 0 0 24 8 10 0 42
PreventionGenetics 0 0 0 5 19 0 24
Genetic Services Laboratory, University of Chicago 1 0 6 6 2 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 14 0 15
ITMI 0 0 0 0 0 13 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 3 0 6
GeneDx 1 2 1 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 1 0 0 4
Fulgent Genetics 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 3
OMIM 2 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

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