ClinVar Miner

Variants from Medical Genetics,University of Parma

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
83 31 41 0 0 155

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NF1 81 31 41 153
CUL7 1 0 0 1
GJB2 1 0 0 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance total
Neurofibromatosis, type 1 81 31 41 153
Keratoderma palmoplantar deafness 1 0 0 1
Three M syndrome 1 1 0 0 1

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