ClinVar Miner

Variants from Department of Genetics, Robert DEBRE University Hospital

Location: France  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
22 8 2 0 0 32

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
EEF1A2 7 8 2 17
ACTB 14 0 0 14
ACTG1 1 0 0 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance total
not provided 7 8 2 17
Baraitser-Winter syndrome 1 14 0 0 14
Baraitser-winter syndrome 2 1 0 0 1

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