Stanford Center for Inherited Cardiovascular Disease (Stanford University), SCICD
General information
Stanford Center for Inherited Cardiovascular Disease, SCICD
Stanford University
Stanford
United States
http://familyheart.stanford.edu/
Organization ID: 505443
Stanford University
Stanford
United States
http://familyheart.stanford.edu/
Organization ID: 505443
Personnel
- John Gorzynski, Staff
Phone: 6502506337
Email: jgorz@stanford.edu - Mitchel Pariani, Genetic Counselor
Phone: (650) 498-0675
Email: mpariani@stanfordhealthcare.org - Mitchelfa Pariani, Genetic Counselor
Phone: 6504980675
Email: mpariani@stanfordhealthcare.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1060
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 1 | Aug 15, 2018 |
| ABCC9 | 6 | Aug 15, 2018 |
| ACADVL | 1 | Aug 15, 2018 |
| ACTA2 | 2 | Aug 15, 2018 |
| ACTA2-AS1 | 1 | Aug 15, 2018 |
| ACTC1 | 5 | Aug 15, 2018 |
| ACTN2 | 17 | Aug 15, 2018 |
| AGL | 2 | Aug 15, 2018 |
| AKAP9 | 13 | Aug 16, 2018 |
| ALMS1 | 9 | Aug 15, 2018 |
| ANK2 | 21 | Aug 15, 2018 |
| ANKRD1 | 4 | Aug 15, 2018 |
| APOB | 4 | Aug 15, 2018 |
| BAG3 | 11 | Aug 15, 2018 |
| CACNA1C | 9 | Aug 15, 2018 |
| CACNA1C-AS1 | 2 | Aug 15, 2018 |
| CACNB2 | 2 | Aug 15, 2018 |
| CALM2 | 1 | Aug 15, 2018 |
| CALM3 | 1 | Aug 15, 2018 |
| CASQ2 | 3 | Aug 15, 2018 |
| CAV3 | 4 | Aug 15, 2018 |
| CBL | 1 | Aug 15, 2018 |
| CBS | 1 | Aug 15, 2018 |
| CEP85L | 3 | Aug 15, 2018 |
| COL3A1 | 1 | May 6, 2016 |
| CRYAB | 1 | Aug 15, 2018 |
| CSNK2B | 1 | Dec 21, 2021 |
| CSRP3 | 4 | Aug 15, 2018 |
| CTNNA3 | 2 | Aug 15, 2018 |
| DEPDC5 | 1 | Aug 15, 2018 |
| DES | 4 | May 6, 2016 |
| DMD | 13 | Aug 15, 2018 |
| DNAAF3 | 1 | May 6, 2016 |
| DOLK | 1 | Aug 15, 2018 |
| DSC2 | 11 | Aug 15, 2018 |
| DSG2 | 9 | Aug 16, 2018 |
| DSG2-AS1 | 1 | May 6, 2016 |
| DSP | 38 | Aug 15, 2018 |
| DSP-AS1 | 1 | May 6, 2016 |
| DTNA | 2 | Aug 15, 2018 |
| ELAC2 | 6 | Aug 15, 2018 |
| EMD | 3 | May 6, 2016 |
| ENG | 1 | Aug 15, 2018 |
| FKRP | 4 | Aug 15, 2018 |
| FKTN | 2 | Aug 15, 2018 |
| FLNA | 1 | Aug 15, 2018 |
| FLNC | 6 | Aug 15, 2018 |
| FLNC-AS1 | 3 | Aug 15, 2018 |
| GAA | 6 | Aug 15, 2018 |
| GATA4 | 1 | Aug 15, 2018 |
| GJD2-DT | 5 | Aug 15, 2018 |
| GLA | 6 | Aug 15, 2018 |
| GPD1L | 1 | Aug 15, 2018 |
| HCN4 | 5 | Aug 15, 2018 |
| ILK | 2 | Aug 15, 2018 |
| JAG1 | 1 | May 6, 2016 |
| JPH2 | 7 | Aug 15, 2018 |
| JUP | 5 | Aug 15, 2018 |
| KCNA5 | 2 | Aug 15, 2018 |
| KCND3 | 1 | Aug 15, 2018 |
| KCNE1 | 4 | Aug 15, 2018 |
| KCNE2 | 2 | Aug 15, 2018 |
| KCNE3 | 2 | May 6, 2016 |
| KCNH2 | 29 | Aug 16, 2018 |
| KCNJ2 | 1 | Aug 15, 2018 |
| KCNJ5 | 1 | Aug 15, 2018 |
| KCNJ8 | 1 | May 6, 2016 |
| KCNK3 | 1 | Aug 15, 2018 |
| KCNQ1 | 50 | Aug 16, 2018 |
| KCNQ1OT1 | 2 | May 6, 2016 |
| KCNT1 | 1 | Aug 15, 2018 |
| LAMA4 | 11 | Aug 15, 2018 |
| LAMA4-AS1 | 1 | Aug 15, 2018 |
| LAMP2 | 6 | Aug 15, 2018 |
| LDB3 | 9 | Aug 15, 2018 |
| LDLR | 27 | Aug 15, 2018 |
| LIPT2 | 1 | May 6, 2016 |
| LMNA | 19 | Aug 15, 2018 |
| LOC105372791 | 2 | Aug 15, 2018 |
| LOC110121269 | 3 | May 6, 2016 |
| LOC110121288 | 2 | Aug 15, 2018 |
| LOC114827850 | 1 | May 6, 2016 |
| LOC114827851 | 1 | Aug 15, 2018 |
| LOC126805877 | 2 | Aug 15, 2018 |
| LOC126806067 | 2 | Aug 15, 2018 |
| LOC126806423 | 1 | Aug 15, 2018 |
| LOC126806424 | 3 | Aug 16, 2018 |
| LOC126806425 | 1 | Aug 15, 2018 |
| LOC126806427 | 1 | Aug 15, 2018 |
| LOC126807136 | 1 | Aug 15, 2018 |
| LOC126807137 | 2 | Aug 15, 2018 |
| LOC126861897 | 5 | May 6, 2016 |
| LOC126861898 | 14 | Aug 15, 2018 |
| LOC126862902 | 1 | Aug 15, 2018 |
| LOC129999660 | 1 | Aug 15, 2018 |
| LOC130004109 | 1 | Aug 15, 2018 |
| LOC130005201 | 1 | May 6, 2016 |
| LOC130062340 | 1 | Aug 15, 2018 |
| LOC130065680 | 1 | Aug 15, 2018 |
| MHRT | 9 | Aug 15, 2018 |
| MIR208B | 1 | May 6, 2016 |
| MT-ND1 | 4 | May 6, 2016 |
| MT-ND5 | 1 | May 6, 2016 |
| MT-ND6 | 1 | May 6, 2016 |
| MT-TG | 1 | May 6, 2016 |
| MT-TI | 5 | May 6, 2016 |
| MT-TK | 1 | May 6, 2016 |
| MT-TL1 | 1 | May 6, 2016 |
| MT-TQ | 1 | May 6, 2016 |
| MT-TS1 | 1 | May 6, 2016 |
| MTO1 | 1 | Aug 15, 2018 |
| MYBPC3 | 116 | Aug 16, 2018 |
| MYH11 | 2 | Aug 15, 2018 |
| MYH6 | 8 | Aug 15, 2018 |
| MYH7 | 112 | Aug 16, 2018 |
| MYL2 | 6 | Aug 15, 2018 |
| MYL3 | 6 | Aug 15, 2018 |
| MYL4 | 1 | Aug 15, 2018 |
| MYLK2 | 3 | Aug 15, 2018 |
| MYOM1 | 5 | Aug 15, 2018 |
| MYOZ2 | 2 | Aug 15, 2018 |
| MYPN | 9 | Aug 16, 2018 |
| NDE1 | 2 | Aug 15, 2018 |
| NEBL | 6 | Aug 16, 2018 |
| NEXN | 6 | Aug 15, 2018 |
| NKX2-5 | 7 | Aug 15, 2018 |
| NOTCH1 | 1 | Aug 15, 2018 |
| NSUN6 | 1 | Aug 15, 2018 |
| OXTR | 3 | Aug 15, 2018 |
| PCDH19 | 2 | Dec 21, 2021 |
| PCSK9 | 3 | Aug 15, 2018 |
| PDLIM3 | 4 | Aug 15, 2018 |
| PKP2 | 18 | Aug 15, 2018 |
| PLN | 3 | Aug 15, 2018 |
| PLOD1 | 1 | Aug 15, 2018 |
| PRDM16 | 2 | Aug 15, 2018 |
| PRKAG2 | 16 | Aug 15, 2018 |
| PTPN11 | 1 | May 6, 2016 |
| RAF1 | 4 | Aug 15, 2018 |
| RBM20 | 18 | Aug 15, 2018 |
| RPL36A-HNRNPH2 | 6 | Aug 15, 2018 |
| RYR1 | 2 | Aug 15, 2018 |
| RYR2 | 40 | Dec 21, 2021 |
| SCN10A | 7 | Aug 15, 2018 |
| SCN1B | 2 | May 6, 2016 |
| SCN4B | 1 | May 6, 2016 |
| SCN5A | 40 | Aug 16, 2018 |
| SDHA | 1 | Aug 15, 2018 |
| SERPINC1 | 1 | Aug 15, 2018 |
| SGCD | 2 | May 6, 2016 |
| SHOC2 | 1 | Aug 15, 2018 |
| SLC22A5 | 2 | Aug 15, 2018 |
| SLC25A22 | 1 | May 6, 2016 |
| SMAD3 | 2 | Aug 15, 2018 |
| SNTA1 | 2 | Aug 15, 2018 |
| SSUH2 | 1 | May 6, 2016 |
| SYNE1 | 1 | May 6, 2016 |
| TAF10 | 1 | Aug 15, 2018 |
| TAFAZZIN | 1 | Aug 15, 2018 |
| TCAP | 2 | May 6, 2016 |
| TGFB2 | 1 | Aug 15, 2018 |
| TGFB3 | 1 | Aug 15, 2018 |
| TGFBR1 | 4 | Aug 15, 2018 |
| TMEM43 | 4 | Aug 15, 2018 |
| TMPO | 3 | Aug 15, 2018 |
| TNNC1 | 5 | May 6, 2016 |
| TNNI3 | 15 | Aug 16, 2018 |
| TNNT2 | 29 | Dec 21, 2021 |
| TPM1 | 16 | Aug 16, 2018 |
| TRDN | 3 | Aug 15, 2018 |
| TRPM4 | 3 | Aug 15, 2018 |
| TTN | 43 | Aug 16, 2018 |
| TTN-AS1 | 32 | Aug 16, 2018 |
| TTR | 8 | Aug 15, 2018 |
| VCL | 8 | Aug 15, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Dec 21, 2021 |
| Developmental and epileptic encephalopathy, 9 | 1 | Dec 21, 2021 |
| Dilated cardiomyopathy 1D | 1 | Dec 21, 2021 |
| Hypertrophic cardiomyopathy 2 | 1 | Dec 21, 2021 |
| Long QT syndrome | 1 | Feb 23, 2015 |
| PCDH19-related epilepsy | 1 | Dec 21, 2021 |
| Poirier-Bienvenu neurodevelopmental syndrome | 1 | Dec 21, 2021 |
| not provided | 724 | Aug 16, 2018 |
| not specified | 329 | Dec 20, 2016 |