Centre for Genomic and Experimental Medicine - Submitter

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

Tim Aitman
Phone: 01316518021
Email: tim.aitman@ed.ac.uk

Assertion criteria

Level: Assertion criteria provided

ACMG Guidelines, 2015
Submitter's publication

Summary of submissions to ClinVar

Total submissions: 97

Gene

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Gene	Submissions	Last Updated
CDCA7L	1	May 27, 2020
COL1A1	2	Aug 30, 2017
COL3A1	4	Aug 30, 2017
COL5A1	1	Aug 30, 2017
COL5A2	2	Aug 30, 2017
DNAAF4	3	May 27, 2020
DNAAF4-CCPG1	3	May 27, 2020
DNAH11	3	May 27, 2020
DNAH5	5	May 27, 2020
DNAH5-AS1	1	May 27, 2020
EVC2	2	Dec 9, 2015
FBN1	21	Aug 30, 2017
FRAS1	2	Dec 9, 2015
LOC108903148	1	Oct 7, 2016
LOC113939944	1	Aug 30, 2017
LOC130057019	1	Aug 30, 2017
MYH11	3	Aug 30, 2017
MYLK	2	Aug 30, 2017
MYLK-AS1	1	Aug 30, 2017
NDE1	2	Aug 30, 2017
NEK1	18	Feb 15, 2024
OPTN	4	Oct 7, 2016
SLC2A10	2	Aug 30, 2017
SOD1	5	Oct 7, 2016
TARDBP	3	Oct 7, 2016
TBK1	7	Oct 7, 2016
TBX20	3	Aug 18, 2017
TGFBR1	2	Aug 30, 2017
TGFBR2	3	Aug 30, 2017

Condition

Name	Submissions	Last Updated
Ciliary dyskinesia	11	May 27, 2020
Ellis-van Creveld syndrome	2	Dec 9, 2015
Familial thoracic aortic aneurysm and aortic dissection	42	Aug 30, 2017
Fraser syndrome 1	2	Dec 9, 2015
Hypoplastic left ventricle	1	Aug 18, 2017
Hypoplastic right heart syndrome	1	Aug 18, 2017
Motor neuron disease	37	Feb 15, 2024
Wolff-Parkinson-White pattern	1	Aug 18, 2017

ClinVar