ClinVar Miner

Variants from Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires

Location: Argentina  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
71 14 10 0 0 95

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
COL7A1 71 14 10 95

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic likely pathogenic uncertain significance total
Recessive dystrophic epidermolysis bullosa 54 9 8 71
Generalized dominant dystrophic epidermolysis bullosa 17 5 2 24

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