Center for Human Genetics (University of Leuven), DME
General information
Center for Human Genetics, DME
University of Leuven
Herestraat 49
Leuven
Belgium - B-3000
http://gbiomed.kuleuven.be/apps/cme/
Organization ID: 505670
University of Leuven
Herestraat 49
Leuven
Belgium - B-3000
http://gbiomed.kuleuven.be/apps/cme/
Organization ID: 505670
Personnel
- Carine Carels
- Gert Matthijs, Principal Investigator
Phone: +32-16345903
Email: gert.matthijs@uzleuven.be
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 258
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC9 | 1 | May 4, 2017 |
| ACTC1 | 1 | Oct 31, 2018 |
| ACTN2 | 2 | Oct 31, 2018 |
| AKAP9 | 2 | May 4, 2017 |
| ANK2 | 2 | May 4, 2017 |
| CACNB2 | 1 | May 4, 2017 |
| CALR3 | 1 | Oct 31, 2018 |
| CASQ2 | 2 | May 4, 2017 |
| CRYAB | 1 | Oct 31, 2018 |
| CSRP3 | 3 | Oct 31, 2018 |
| DDX3X | 2 | Jan 22, 2016 |
| DES | 1 | May 4, 2017 |
| DSC2 | 1 | May 4, 2017 |
| DSP | 3 | May 4, 2017 |
| EP300 | 1 | Jan 22, 2016 |
| FLNC | 21 | Oct 8, 2022 |
| FLNC-AS1 | 7 | Oct 8, 2022 |
| GJA5 | 1 | May 4, 2017 |
| GJD2-DT | 1 | Oct 31, 2018 |
| HCN4 | 3 | May 4, 2017 |
| HDAC8 | 1 | Jan 22, 2016 |
| KCNE1 | 1 | May 4, 2017 |
| KCNE2 | 1 | May 4, 2017 |
| KCNH2 | 5 | May 4, 2017 |
| KCNJ5 | 1 | May 4, 2017 |
| KCNQ1 | 2 | May 4, 2017 |
| KCNQ1-AS1 | 1 | May 4, 2017 |
| KLF12 | 1 | Oct 5, 2017 |
| LDB3 | 1 | May 4, 2017 |
| LMNA | 2 | May 4, 2017 |
| LMNB1 | 5 | Feb 21, 2020 |
| LOC105372791 | 1 | May 4, 2017 |
| LOC114827850 | 1 | Oct 31, 2018 |
| LOC122128420 | 1 | May 4, 2017 |
| LOC126806067 | 1 | Oct 31, 2018 |
| LOC126806068 | 1 | Oct 31, 2018 |
| LOC126806422 | 1 | Dec 31, 2022 |
| LOC126806423 | 1 | Dec 31, 2022 |
| LOC126806425 | 1 | Dec 31, 2022 |
| LOC126807136 | 1 | May 4, 2017 |
| LOC126861896 | 1 | Oct 31, 2018 |
| LOC126861897 | 1 | Oct 31, 2018 |
| LOC126861898 | 4 | Oct 31, 2018 |
| LOC126863275 | 1 | Jan 22, 2016 |
| MAGT1 | 3 | Apr 5, 2019 |
| MECP2 | 1 | Jan 22, 2016 |
| MED12 | 1 | Jan 22, 2016 |
| MEN1 | 1 | Oct 6, 2017 |
| MYBPC3 | 51 | Oct 31, 2018 |
| MYH6 | 5 | Oct 31, 2018 |
| MYH7 | 30 | Oct 31, 2018 |
| MYL2 | 1 | Oct 31, 2018 |
| MYL3 | 2 | Oct 31, 2018 |
| MYLK2 | 2 | Oct 31, 2018 |
| MYOZ2 | 1 | Oct 31, 2018 |
| MYPN | 2 | Oct 31, 2018 |
| NHS | 1 | Jan 22, 2016 |
| NLRC4 | 1 | Feb 9, 2023 |
| NSUN6 | 1 | May 4, 2017 |
| POLA1 | 5 | Feb 20, 2019 |
| PRKAG2 | 3 | Oct 31, 2018 |
| RBM20 | 1 | Aug 27, 2018 |
| RYR2 | 10 | Oct 31, 2018 |
| SCN2B | 1 | May 4, 2017 |
| SCN5A | 3 | May 4, 2017 |
| SIX3 | 1 | Sep 5, 2014 |
| SMC1A | 1 | Jan 22, 2016 |
| SNTA1 | 1 | May 4, 2017 |
| SYNGAP1 | 1 | Jan 22, 2016 |
| SYNGAP1-AS1 | 1 | Jan 22, 2016 |
| TAF9B | 1 | Jan 22, 2016 |
| TCAP | 1 | May 4, 2017 |
| TET2 | 1 | Feb 9, 2023 |
| TET2-AS1 | 1 | Feb 9, 2023 |
| TGFB3 | 1 | May 4, 2017 |
| TMPO | 1 | May 4, 2017 |
| TNNC1 | 1 | Oct 31, 2018 |
| TNNI3 | 6 | Oct 31, 2018 |
| TNNT2 | 5 | Oct 31, 2018 |
| TPM1 | 5 | Oct 31, 2018 |
| TRPM4 | 2 | May 4, 2017 |
| TTN | 32 | Dec 31, 2022 |
| TTN-AS1 | 26 | Dec 31, 2022 |
| VCL | 3 | Oct 31, 2018 |
| WDR45 | 1 | Jan 22, 2016 |
| ZNF462 | 1 | Oct 5, 2017 |