Center for Advanced Laboratory Medicine, UC San Diego Health (University of California San Diego)
General information
Personnel
- Sarah Murray, Lab Director
Phone: 8586575716
Email: [email protected] - Shulei Sun, Informatics staff
Phone: 8586576409
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 721
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC9 | 5 | Jun 12, 2019 |
| ACTC1 | 1 | Jun 12, 2019 |
| ACTN2 | 5 | Jun 12, 2019 |
| AKAP9 | 21 | Jun 12, 2019 |
| ANK2 | 24 | Jun 12, 2019 |
| ANKRD1 | 4 | Jun 12, 2019 |
| BAG3 | 8 | Jun 12, 2019 |
| BRAF | 3 | Jun 12, 2019 |
| CACNA1C | 11 | Jun 12, 2019 |
| CACNA1C-AS1 | 6 | Jun 12, 2019 |
| CACNB2 | 7 | Jun 12, 2019 |
| CALR3 | 5 | Jun 12, 2019 |
| CASQ2 | 2 | Jun 12, 2019 |
| CAV3 | 2 | Jun 12, 2019 |
| CEP85L | 1 | Jun 12, 2019 |
| COX15 | 1 | Jun 12, 2019 |
| CRYAB | 1 | Jun 12, 2019 |
| CTF1 | 2 | Jun 12, 2019 |
| CYP51A1 | 1 | Jun 12, 2019 |
| DES | 2 | Jun 12, 2019 |
| DMD | 14 | Jun 12, 2019 |
| DSC2 | 5 | Jun 12, 2019 |
| DSG2 | 15 | Jun 12, 2019 |
| DSG2-AS1 | 5 | Jun 12, 2019 |
| DSP | 25 | Jun 12, 2019 |
| DSP-AS1 | 1 | Jun 12, 2019 |
| DTNA | 2 | Jun 12, 2019 |
| EMD | 2 | Jun 12, 2019 |
| EYA4 | 2 | Jun 12, 2019 |
| FKRP | 2 | Jun 12, 2019 |
| FKTN | 3 | Jun 12, 2019 |
| FXN | 1 | Jun 12, 2019 |
| GAA | 10 | Jun 12, 2019 |
| GJD2-DT | 1 | Jun 12, 2019 |
| GLA | 2 | Jun 12, 2019 |
| GPD1L | 2 | Jun 12, 2019 |
| HCN4 | 12 | Jun 12, 2019 |
| ILK | 1 | Jun 12, 2019 |
| JPH2 | 4 | Jun 12, 2019 |
| JUP | 5 | Jun 12, 2019 |
| KCND3 | 1 | Jun 12, 2019 |
| KCNE1 | 5 | Jun 12, 2019 |
| KCNE3 | 1 | Jun 12, 2019 |
| KCNH2 | 1 | Jun 12, 2019 |
| KCNJ2 | 1 | Jun 12, 2019 |
| KCNJ5 | 2 | Jun 12, 2019 |
| KCNJ8 | 2 | Jun 12, 2019 |
| KCNQ1 | 5 | Jun 12, 2019 |
| LAMA4 | 11 | Jun 12, 2019 |
| LAMP2 | 1 | Jun 12, 2019 |
| LDB3 | 8 | Jun 12, 2019 |
| LIPT2 | 1 | Jun 12, 2019 |
| LMNA | 6 | Feb 12, 2024 |
| LOC101927055 | 5 | Jun 12, 2019 |
| LOC105370890 | 1 | Jun 12, 2019 |
| LOC110121269 | 3 | Jun 12, 2019 |
| LOC110121486 | 1 | Jun 12, 2019 |
| LOC114827850 | 1 | Jun 12, 2019 |
| LOC114827851 | 2 | Jun 12, 2019 |
| LOC121175350 | 2 | Jun 12, 2019 |
| LOC126805765 | 1 | Jun 12, 2019 |
| LOC126806420 | 2 | Jun 12, 2019 |
| LOC126806421 | 1 | Jun 12, 2019 |
| LOC126806422 | 4 | Jun 12, 2019 |
| LOC126806423 | 2 | Sep 1, 2022 |
| LOC126806424 | 2 | Jun 12, 2019 |
| LOC126806425 | 3 | Jun 12, 2019 |
| LOC126806426 | 2 | Jun 12, 2019 |
| LOC126806427 | 4 | Jun 12, 2019 |
| LOC126806429 | 4 | Jun 12, 2019 |
| LOC126806430 | 6 | Jun 12, 2019 |
| LOC126806431 | 2 | Jun 12, 2019 |
| LOC126807137 | 3 | Jun 12, 2019 |
| LOC126807246 | 1 | Jun 12, 2019 |
| LOC126859766 | 2 | Jun 12, 2019 |
| LOC126861896 | 2 | Jun 12, 2019 |
| LOC126861897 | 1 | Jun 12, 2019 |
| LOC126861898 | 2 | Jun 12, 2019 |
| LOC126862173 | 1 | Jun 12, 2019 |
| LOC130001862 | 1 | Jun 12, 2019 |
| LOC130005201 | 1 | Jun 12, 2019 |
| LOC130058878 | 1 | Jun 12, 2019 |
| MAP2K2 | 1 | Jun 12, 2019 |
| MHRT | 2 | Jun 12, 2019 |
| MYBPC3 | 20 | Jun 12, 2019 |
| MYH6 | 17 | Jun 12, 2019 |
| MYH7 | 8 | Jun 12, 2019 |
| MYL2 | 5 | Jun 12, 2019 |
| MYL3 | 1 | Jun 12, 2019 |
| MYLK2 | 5 | Jun 12, 2019 |
| MYOT | 4 | Jun 12, 2019 |
| MYOZ2 | 2 | Jun 12, 2019 |
| MYPN | 11 | Jun 12, 2019 |
| NEXN | 4 | Jun 12, 2019 |
| NKX2-5 | 1 | Jun 12, 2019 |
| NSUN6 | 4 | Jun 12, 2019 |
| OXTR | 2 | Jun 12, 2019 |
| PDLIM3 | 3 | Jun 12, 2019 |
| PKD2L2-DT | 4 | Jun 12, 2019 |
| PKP2 | 11 | Jun 12, 2019 |
| PLN | 1 | Jun 12, 2019 |
| PRKAG2 | 3 | Jun 12, 2019 |
| PTPN11 | 4 | Jun 12, 2019 |
| RAF1 | 1 | Jun 12, 2019 |
| RBM20 | 16 | Jun 12, 2019 |
| RPL36A-HNRNPH2 | 2 | Jun 12, 2019 |
| RYR2 | 12 | Jun 12, 2019 |
| SCN3B | 1 | Jun 12, 2019 |
| SCN5A | 12 | Jun 12, 2019 |
| SGCA | 4 | Jun 12, 2019 |
| SGCB | 1 | Jun 12, 2019 |
| SGCD | 1 | Jun 12, 2019 |
| SGCG | 1 | Jun 12, 2019 |
| SLC25A4 | 2 | Jun 12, 2019 |
| SNTA1 | 3 | Jun 12, 2019 |
| SOS1 | 4 | Jun 12, 2019 |
| TCAP | 4 | Jun 12, 2019 |
| TGFB3 | 4 | Jun 12, 2019 |
| TMEM43 | 3 | Jun 12, 2019 |
| TMPO | 5 | Jun 12, 2019 |
| TNNI3 | 3 | Jun 12, 2019 |
| TNNT2 | 2 | Jun 12, 2019 |
| TPM1 | 5 | Jun 12, 2019 |
| TRPM4 | 14 | Jun 12, 2019 |
| TTN | 258 | Sep 1, 2022 |
| TTN-AS1 | 142 | Sep 1, 2022 |
| TTR | 5 | Jun 12, 2019 |
| VCL | 4 | Jun 12, 2019 |