Institut für Laboratoriums- und Transfusionsmedizin (Herz- und Diabeteszentrum Nordrhein-Westfalen), ILTM
General information
Personnel
- Baerbel Klauke, Variant scientist/curator
Phone: +49(0)5731973522
Email: bklauke@hdz-nrw.de
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 65
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CEP85L | 1 | Jun 24, 2016 |
| CRYAB | 1 | Jun 24, 2016 |
| DES | 4 | Jun 24, 2016 |
| DSC2 | 2 | Jun 24, 2016 |
| DSP | 4 | Jun 24, 2016 |
| DSP-AS1 | 1 | Jun 24, 2016 |
| LAMA4 | 1 | Jun 24, 2016 |
| LAMA4-AS1 | 1 | Jun 24, 2016 |
| LMNA | 4 | Jun 24, 2016 |
| LOC126806067 | 1 | Jun 24, 2016 |
| MYH6 | 1 | Jun 24, 2016 |
| MYH7 | 4 | Jun 24, 2016 |
| MYL2 | 1 | Jun 24, 2016 |
| MYL3 | 1 | Jun 24, 2016 |
| NEXN | 2 | Jun 24, 2016 |
| PKP2 | 4 | Jun 24, 2016 |
| PLN | 1 | Jun 24, 2016 |
| PRKAG2 | 1 | Jun 24, 2016 |
| RBM20 | 2 | Jun 24, 2016 |
| RYR2 | 2 | Jun 24, 2016 |
| TCAP | 1 | Jun 24, 2016 |
| TNNC1 | 2 | Jun 24, 2016 |
| TNNI3 | 1 | Jun 24, 2016 |
| TNNT2 | 1 | Jun 24, 2016 |
| TTN | 24 | Jun 24, 2016 |
| TTN-AS1 | 18 | Jun 24, 2016 |
| VCL | 1 | Jun 24, 2016 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Arrhythmogenic right ventricular dysplasia 9 | 15 | Jun 24, 2016 |
| Cardiomyopathy, familial restrictive, 1 | 3 | Jun 24, 2016 |
| Dilated cardiomyopathy 1S | 44 | Jun 24, 2016 |
| Hypertrophic cardiomyopathy 4 | 2 | Jun 24, 2016 |
| Left ventricular noncompaction 2 | 1 | Jun 24, 2016 |