ClinVar Miner

Variants from Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

Location: Italy  Primary collection method: clinical testing
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
142 66 66 4 3 280

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
VWF 102 59 66 4 3 233
F8 26 4 0 0 0 30
F9 13 3 0 0 0 16
F8, FUNDC2, LOC130068894 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
von Willebrand disease type 3 79 38 34 2 1 154
von Willebrand disease type 2 23 21 32 2 2 80
Hereditary factor VIII deficiency disease 27 4 0 0 0 31
Hereditary factor IX deficiency disease 13 3 0 0 0 16

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