Cardiovascular Biomedical Research Unit (NHS South East Genomic Laboratory Hub), RBH_CV_BRU
General information
Cardiovascular Biomedical Research Unit, RBH_CV_BRU
NHS South East Genomic Laboratory Hub
London
United Kingdom
http://cardiodb.org
Organization ID: 500163
NHS South East Genomic Laboratory Hub
London
United Kingdom
http://cardiodb.org
Organization ID: 500163
Personnel
- Stuart Cook
- Gillian Rea, Contact
Phone: +44 (0)20 7352 8121 ext 2965
Email: g.rea@imperial.ac.uk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1523
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ANK2 | 20 | Sep 22, 2016 |
| CACNA1C | 8 | Sep 22, 2016 |
| CACNA1C-AS1 | 2 | Sep 22, 2016 |
| FAM135A | 1 | Sep 1, 2016 |
| KCNE1 | 35 | Sep 22, 2016 |
| KCNE2 | 19 | Sep 22, 2016 |
| KCNH2 | 415 | Sep 22, 2016 |
| KCNJ2 | 49 | Sep 22, 2016 |
| KCNQ1 | 313 | Sep 22, 2016 |
| KCNQ1-AS1 | 11 | Sep 22, 2016 |
| KCNQ1OT1 | 2 | Sep 22, 2016 |
| LOC101927055 | 1 | Oct 8, 2014 |
| LOC105372791 | 19 | Sep 22, 2016 |
| LOC110121269 | 33 | Sep 22, 2016 |
| LOC126806421 | 2 | Oct 8, 2014 |
| LOC126806422 | 3 | Oct 8, 2014 |
| LOC126806423 | 1 | Oct 8, 2014 |
| LOC126806424 | 3 | Oct 8, 2014 |
| LOC126806427 | 1 | Oct 8, 2014 |
| LOC126806428 | 1 | Oct 8, 2014 |
| LOC126806432 | 1 | Oct 8, 2014 |
| LOC126807136 | 1 | Sep 22, 2016 |
| LOC126807137 | 1 | Sep 22, 2016 |
| LOC129935186 | 1 | Oct 8, 2014 |
| NDUFB11 | 1 | Sep 1, 2016 |
| SCN5A | 488 | Sep 22, 2016 |
| TTN | 174 | Oct 8, 2014 |
| TTN-AS1 | 104 | Oct 8, 2014 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acquired long QT syndrome | 6 | Sep 22, 2016 |
| Atrial fibrillation | 17 | Sep 22, 2016 |
| Atrioventricular block | 2 | Sep 22, 2016 |
| Brugada syndrome | 222 | Sep 22, 2016 |
| Cardiac arrhythmia | 6 | Sep 22, 2016 |
| Conduction system disorder | 6 | Sep 22, 2016 |
| Congenital long QT syndrome | 892 | Sep 22, 2016 |
| Familial periodic paralysis | 1 | Sep 22, 2016 |
| Histiocytoid cardiomyopathy | 2 | Sep 1, 2016 |
| Primary dilated cardiomyopathy | 180 | Sep 22, 2016 |
| SUDDEN INFANT DEATH SYNDROME | 14 | Sep 22, 2016 |
| Short QT syndrome | 7 | Sep 22, 2016 |
| Sick sinus syndrome | 1 | Sep 22, 2016 |
| Sudden cardiac death | 2 | Sep 22, 2016 |
| Torsades de pointes | 4 | Sep 22, 2016 |
| Ventricular fibrillation | 2 | Sep 22, 2016 |
| Ventricular tachycardia | 4 | Sep 22, 2016 |
| not provided | 155 | Sep 22, 2016 |