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Centre for Genomic and Experimental Medicine (University of Edinburgh)

General information

Centre for Genomic and Experimental Medicine
University of Edinburgh
Western General Hospital; Crewe Road
Edinburgh
Midlothian
United Kingdom - EH4 2XU
http://www.cgem.ed.ac.uk/
Organization ID: 505630

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 97

Gene

GeneSubmissionsLast Updated
CDCA7L1May 27, 2020
COL1A12Aug 30, 2017
COL3A14Aug 30, 2017
COL5A11Aug 30, 2017
COL5A22Aug 30, 2017
DNAAF43May 27, 2020
DNAAF4-CCPG13May 27, 2020
DNAH113May 27, 2020
DNAH55May 27, 2020
EVC22Dec 9, 2015
FBN121Aug 30, 2017
FRAS12Dec 9, 2015
LOC1089031481Oct 7, 2016
LOC1139399441Aug 30, 2017
LOC1300570191Aug 30, 2017
MYH113Aug 30, 2017
MYLK2Aug 30, 2017
MYLK-AS11Aug 30, 2017
NDE12Aug 30, 2017
NEK118Feb 15, 2024
OPTN4Oct 7, 2016
SLC2A102Aug 30, 2017
SOD15Oct 7, 2016
TARDBP3Oct 7, 2016
TBK17Oct 7, 2016
TBX203Aug 18, 2017
TGFBR12Aug 30, 2017
TGFBR23Aug 30, 2017

Condition

NameSubmissionsLast Updated
Ellis-van Creveld syndrome2Dec 9, 2015
Familial thoracic aortic aneurysm and aortic dissection42Aug 30, 2017
Fraser syndrome 12Dec 9, 2015
Hypoplastic left heart syndrome1Aug 18, 2017
Hypoplastic right heart syndrome1Aug 18, 2017
Motor neuron disease37Feb 15, 2024
Primary ciliary dyskinesia11May 27, 2020
Wolff-Parkinson-White pattern1Aug 18, 2017