ClinVar Miner

Variants from Wessex Regional Genetics Laboratory, Salisbury District Hospital

Location: United Kingdom  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
233 61 11 0 0 305

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PAX6 103 25 2 130
CREBBP 77 18 7 102
FOXL2 34 15 1 50
EP300 13 2 1 16
ELP4, PAX6 6 1 0 7

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance total
Aniridia 1 109 24 2 135
Rubinstein-Taybi syndrome due to CREBBP mutations 77 18 7 102
Blepharophimosis, ptosis, and epicanthus inversus syndrome 34 15 1 50
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 13 2 1 16
Foveal hypoplasia 1 0 2 0 2

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