KardioGenetik (Herz- und Diabeteszentrum NRW)
General information
Personnel
- Dr. Martin Farr, Lab Director
Phone: 004957313804
Email: kardiolab@hdz-nrw.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 152
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCG8 | 1 | Apr 2, 2024 |
| ACTC1 | 2 | Nov 13, 2023 |
| ACTN2 | 3 | Nov 3, 2025 |
| ACVRL1 | 1 | Apr 2, 2024 |
| ALPK3 | 2 | Oct 1, 2024 |
| ANK2 | 2 | Apr 2, 2024 |
| CACNA1C | 5 | Jul 7, 2025 |
| CACNA1C-AS1 | 2 | Aug 6, 2024 |
| COL3A1 | 1 | Jan 2, 2025 |
| COL5A1 | 1 | May 4, 2026 |
| CSRP3 | 1 | Jun 6, 2024 |
| DES | 2 | Nov 3, 2025 |
| DSC2 | 2 | Apr 2, 2024 |
| DSG2 | 5 | Dec 3, 2024 |
| DSP | 7 | Mar 2, 2026 |
| ELN | 2 | Apr 2, 2024 |
| ELN-AS1 | 1 | Nov 13, 2023 |
| FBN1 | 1 | May 4, 2026 |
| FLNC | 7 | Jan 19, 2026 |
| FLNC-AS1 | 1 | Oct 1, 2024 |
| FPGT-TNNI3K | 1 | Sep 4, 2023 |
| GAA | 2 | Nov 13, 2023 |
| GJD2-DT | 2 | Nov 13, 2023 |
| HCN4 | 1 | Jun 6, 2024 |
| ITGA2B | 2 | Nov 13, 2023 |
| JPH2 | 1 | Oct 1, 2024 |
| KCNH2 | 8 | Jul 7, 2025 |
| KCNQ1 | 7 | May 4, 2026 |
| LDB3 | 1 | Feb 6, 2024 |
| LIPA | 1 | Oct 1, 2024 |
| LMNA | 2 | Mar 2, 2026 |
| LOC101927055 | 1 | Feb 6, 2024 |
| LOC110121269 | 1 | Oct 1, 2024 |
| LOC113939944 | 1 | May 4, 2026 |
| LOC126806423 | 1 | Jun 6, 2024 |
| LOC129931597 | 1 | Mar 2, 2026 |
| LOC130062340 | 1 | Aug 6, 2024 |
| MHRT | 1 | Feb 6, 2024 |
| MYBPC3 | 10 | Mar 2, 2026 |
| MYH11 | 2 | Jun 6, 2024 |
| MYH7 | 5 | Jan 2, 2025 |
| NDE1 | 1 | Feb 6, 2024 |
| NEXN | 2 | Sep 4, 2023 |
| NOTCH1 | 1 | May 4, 2026 |
| PKP2 | 1 | Nov 3, 2025 |
| PRKG1 | 1 | Nov 13, 2023 |
| PROC | 1 | Nov 3, 2025 |
| RBM20 | 1 | Sep 4, 2023 |
| RYR2 | 7 | Jan 19, 2026 |
| SCN5A | 12 | Sep 1, 2025 |
| TAFAZZIN | 1 | Feb 27, 2025 |
| TBX20 | 1 | Apr 2, 2024 |
| TGFBR1 | 1 | Nov 3, 2025 |
| THSD4 | 1 | Feb 6, 2024 |
| TMEM43 | 1 | Feb 6, 2024 |
| TNNI3K | 1 | Sep 4, 2023 |
| TNNT2 | 2 | Oct 1, 2024 |
| TPM1 | 2 | Aug 6, 2024 |
| TRDN | 1 | Sep 4, 2023 |
| TTN | 26 | Nov 3, 2025 |
| TTN-AS1 | 14 | Sep 1, 2025 |
| VCL | 2 | Feb 6, 2024 |