Agnes Ginges Centre for Molecular Cardiology (Centenary Institute), CI-AGCMC
General information
Personnel
- Jodie Ingles, Contact
Phone: 61295656295
Email: jingles@centenary.org.au - Christopher Semsarian
Phone: +61 2 9565 6195
Email: c.semsarian@centenary.org.au
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 347
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC9 | 1 | Aug 20, 2019 |
| ACTC1 | 5 | Nov 25, 2019 |
| ACTN2 | 4 | Apr 14, 2020 |
| AKAP9 | 2 | Nov 18, 2019 |
| ALPK3 | 1 | Apr 14, 2020 |
| ANK2 | 2 | Nov 18, 2019 |
| CACNA1C | 4 | Nov 25, 2019 |
| CACNA1C-AS1 | 1 | Nov 25, 2019 |
| CACNB2 | 2 | Aug 20, 2019 |
| CASQ2 | 1 | Aug 20, 2019 |
| CEP85L | 1 | Aug 20, 2019 |
| CRYAB | 1 | Aug 20, 2019 |
| CSRP3 | 7 | Apr 14, 2020 |
| CTF1 | 1 | Aug 20, 2019 |
| DES | 1 | Apr 14, 2020 |
| DMD | 1 | Aug 20, 2019 |
| DSC2 | 1 | Nov 25, 2019 |
| DSG2 | 1 | Aug 20, 2019 |
| DSP | 8 | Apr 14, 2020 |
| ELAC2 | 2 | Nov 25, 2019 |
| FHOD3 | 1 | Apr 14, 2020 |
| FLNC | 1 | Nov 25, 2019 |
| FLNC-AS1 | 1 | Nov 25, 2019 |
| GJD2-DT | 5 | Nov 25, 2019 |
| GLA | 2 | Apr 14, 2020 |
| HCN4 | 1 | Apr 14, 2020 |
| JUP | 1 | Nov 25, 2019 |
| KCNA5 | 1 | Dec 19, 2017 |
| KCNE1 | 1 | Dec 19, 2017 |
| KCNE2 | 1 | Aug 20, 2019 |
| KCNH2 | 9 | Apr 14, 2020 |
| KCNJ2 | 1 | Apr 14, 2020 |
| KCNJ8 | 1 | Aug 20, 2019 |
| KCNQ1 | 6 | Apr 14, 2020 |
| LAMA4 | 1 | Dec 19, 2017 |
| LAMA4-AS1 | 1 | Dec 19, 2017 |
| LAMP2 | 1 | Nov 18, 2019 |
| LDB3 | 4 | Apr 14, 2020 |
| LMNA | 3 | Nov 25, 2019 |
| LOC105372791 | 1 | Aug 20, 2019 |
| LOC110121269 | 1 | Nov 18, 2019 |
| LOC110121486 | 1 | Nov 25, 2019 |
| LOC114827850 | 1 | Dec 19, 2017 |
| LOC126806423 | 1 | Nov 18, 2019 |
| LOC126806427 | 1 | Dec 19, 2017 |
| LOC126807137 | 1 | Nov 18, 2019 |
| LOC126861896 | 1 | Nov 25, 2019 |
| LOC126861897 | 3 | Nov 25, 2019 |
| LOC126861898 | 11 | Apr 14, 2020 |
| LOC129931597 | 1 | Aug 25, 2015 |
| LOC129935184 | 1 | Dec 19, 2017 |
| LOC130057222 | 1 | Nov 18, 2019 |
| LOC130058878 | 1 | Aug 20, 2019 |
| MHRT | 4 | Nov 25, 2019 |
| MYBPC3 | 72 | Apr 14, 2020 |
| MYH6 | 7 | Nov 25, 2019 |
| MYH7 | 70 | Apr 14, 2020 |
| MYL2 | 2 | Dec 19, 2017 |
| MYL3 | 6 | Apr 14, 2020 |
| MYLK2 | 1 | Aug 20, 2019 |
| MYOM1 | 1 | Aug 20, 2019 |
| MYPN | 2 | Nov 18, 2019 |
| NEBL | 4 | Apr 14, 2020 |
| NEXN | 3 | Apr 14, 2020 |
| NRAP | 1 | Apr 14, 2020 |
| NSUN6 | 1 | Aug 20, 2019 |
| PKP2 | 7 | Apr 14, 2020 |
| PLN | 1 | Aug 20, 2019 |
| PRDM16 | 1 | Apr 14, 2020 |
| PRKAG2 | 4 | Nov 25, 2019 |
| PTPN11 | 1 | Nov 18, 2019 |
| RAF1 | 1 | Nov 18, 2019 |
| RBM20 | 5 | Apr 14, 2020 |
| RPL36A-HNRNPH2 | 2 | Apr 14, 2020 |
| RYR2 | 15 | Apr 14, 2020 |
| SCN1B | 1 | Apr 10, 2015 |
| SCN3B | 1 | Nov 25, 2019 |
| SCN5A | 14 | Apr 14, 2020 |
| SGCD | 1 | Dec 19, 2017 |
| TBX5 | 1 | Nov 25, 2019 |
| TCAP | 3 | Nov 25, 2019 |
| TMEM43 | 1 | Apr 14, 2020 |
| TNNI3 | 12 | Apr 14, 2020 |
| TNNT2 | 12 | Apr 14, 2020 |
| TPM1 | 4 | Nov 18, 2019 |
| TPM1-AS | 1 | Nov 18, 2019 |
| TRPM4 | 1 | Aug 20, 2019 |
| TTN | 8 | Apr 14, 2020 |
| TTN-AS1 | 3 | Apr 14, 2020 |
| VCL | 4 | Nov 25, 2019 |