ClinVar Miner

Variants studied for Fanconi anemia, complementation group E

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 total
12 4 120 16 15 156

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FANCE 12 4 120 16 15 156

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 2 78 14 13 112
Illumina Clinical Services Laboratory,Illumina 0 0 49 3 9 61
Leiden Open Variation Database 7 0 5 0 0 12
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 7
OMIM 3 0 0 0 0 3
Mendelics 0 1 1 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 1 0 1
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 1 0 0 0 1

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