Variants from Wessex Regional Genetics Laboratory, Salisbury District Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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