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Wessex Regional Genetics Laboratory (Salisbury District Hospital)

General information

Wessex Regional Genetics Laboratory
Salisbury District Hospital
Odstock Road
Salisbury
Wiltshire
United Kingdom - SP2 8BJ
http://www.salisbury.nhs.uk/InformationForPatients/Departments/WRGL/Pages/WessexRegionalGeneticsLaboratory.aspx/
Organization ID: 506925

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 305

Gene

GeneSubmissionsLast Updated
CREBBP102Nov 8, 2019
ELP47Aug 23, 2019
EP30016Mar 6, 2020
FOXL250Mar 8, 2019
PAX6137Jul 23, 2020

Condition

NameSubmissionsLast Updated
Aniridia 1135Jul 23, 2020
Blepharophimosis, ptosis, and epicanthus inversus syndrome50Mar 8, 2019
Foveal hypoplasia 12Jul 23, 2020
Rubinstein-Taybi syndrome due to CREBBP mutations102Nov 8, 2019
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency16Mar 6, 2020