ClinVar Miner

Variants from Centre de Recherche Saint Antoine, Université Pierre et Marie Curie

Location: France  Primary collection method: not provided
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 not provided total
16 0 0 0 0 1 17

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic not provided total
CDKN1C 10 1 11
HMGA2 2 0 2
IGF2, INS-IGF2 2 0 2
LOC126860395, PLAG1 1 0 1
PLAG1 1 0 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic not provided total
Beckwith-Wiedemann syndrome 10 0 10
Silver-Russell syndrome 1 6 1 7

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