Cohesion Phenomics
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 255
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTA2 | 1 | Feb 13, 2023 |
| ACTC1 | 2 | Feb 3, 2023 |
| APOB | 18 | Feb 13, 2023 |
| CASQ2 | 6 | Feb 3, 2023 |
| COL3A1 | 6 | Feb 13, 2023 |
| DNAAF3 | 4 | Feb 3, 2023 |
| DSC2 | 5 | Feb 7, 2023 |
| DSCAS | 1 | Feb 7, 2023 |
| DSG2 | 10 | Feb 7, 2023 |
| DSG2-AS1 | 6 | Feb 7, 2023 |
| DSP | 16 | Feb 7, 2023 |
| DSP-AS1 | 2 | Feb 7, 2023 |
| FBN1 | 10 | Feb 13, 2023 |
| GJD2-DT | 2 | Feb 3, 2023 |
| GLA | 3 | Feb 3, 2023 |
| JUP | 6 | Feb 7, 2023 |
| KCNH2 | 5 | Feb 3, 2023 |
| KCNQ1 | 4 | Feb 3, 2023 |
| KCNQ1-AS1 | 1 | Feb 3, 2023 |
| LAMP2 | 4 | Feb 3, 2023 |
| LDLR | 11 | Feb 13, 2023 |
| LMNA | 6 | Feb 7, 2023 |
| LOC106560211 | 1 | Sep 19, 2022 |
| LOC110121269 | 3 | Feb 7, 2023 |
| LOC114827850 | 1 | Feb 3, 2023 |
| LOC126805877 | 1 | Feb 7, 2023 |
| LOC126861897 | 3 | Feb 15, 2023 |
| MHRT | 10 | Feb 15, 2023 |
| MYBPC3 | 22 | Feb 3, 2023 |
| MYH7 | 36 | Feb 15, 2023 |
| MYL2 | 6 | Feb 3, 2023 |
| MYL3 | 1 | Feb 3, 2023 |
| PCSK9 | 12 | Feb 13, 2023 |
| PKP2 | 6 | Feb 7, 2023 |
| PRKAG2 | 7 | Feb 3, 2023 |
| RBM20 | 4 | Feb 7, 2023 |
| RPL36A-HNRNPH2 | 3 | Feb 3, 2023 |
| RYR2 | 1 | Feb 6, 2023 |
| SCN5A | 12 | Feb 7, 2023 |
| SMAD3 | 2 | Feb 13, 2023 |
| TGFBR1 | 1 | Feb 13, 2023 |
| TGFBR2 | 3 | Feb 13, 2023 |
| TMEM43 | 5 | Feb 7, 2023 |
| TNNI3 | 7 | Feb 3, 2023 |
| TNNT2 | 10 | Feb 3, 2023 |
| TPM1 | 5 | Feb 3, 2023 |
| TTR | 2 | Feb 3, 2023 |
| VANGL1 | 3 | Feb 3, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cardiomyopathy | 68 | Feb 7, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia | 7 | Feb 6, 2023 |
| Congestive heart failure | 3 | Feb 3, 2023 |
| Ehlers-Danlos syndrome, type 4 | 6 | Feb 13, 2023 |
| Familial hypercholesterolemia | 41 | Feb 13, 2023 |
| Hypertrophic cardiomyopathy | 82 | Feb 15, 2023 |
| Long QT syndrome | 10 | Feb 3, 2023 |
| Marfan syndrome | 10 | Feb 13, 2023 |
| Primary dilated cardiomyopathy | 21 | Feb 7, 2023 |
| Thoracic aortic aneurysm | 7 | Feb 13, 2023 |