Zaffran Lab, Genetics of Cardiac Diseases Laboratory (Marseille Medical Genetics)
General information
Personnel
- Hager Jaouadi, Contact
Phone: +33(0)628427443
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 98
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTN2 | 5 | Oct 16, 2024 |
| ALPK3 | 5 | Oct 16, 2024 |
| CAV3 | 1 | Oct 14, 2024 |
| CSRP3 | 3 | Oct 14, 2024 |
| FHOD3 | 6 | Oct 16, 2024 |
| FLNC | 2 | Oct 18, 2024 |
| FLNC-AS1 | 2 | Oct 18, 2024 |
| HOXA10-HOXA9 | 1 | Nov 22, 2022 |
| HOXA13 | 1 | Nov 22, 2022 |
| HOXA9 | 1 | Nov 22, 2022 |
| JPH2 | 1 | Oct 14, 2024 |
| LOC107126288 | 1 | Nov 22, 2022 |
| LOC107197952 | 1 | Nov 22, 2022 |
| LOC130062385 | 1 | Oct 16, 2024 |
| MHRT | 1 | Oct 18, 2024 |
| MYBPC3 | 39 | Oct 16, 2024 |
| MYH6 | 6 | Oct 16, 2024 |
| MYH7 | 2 | Oct 18, 2024 |
| MYL2 | 1 | Oct 14, 2024 |
| MYL3 | 3 | Oct 14, 2024 |
| MYLK2 | 3 | Oct 14, 2024 |
| MYPN | 4 | Oct 16, 2024 |
| NEXN | 1 | Oct 14, 2024 |
| OXTR | 1 | Oct 14, 2024 |
| SVIL | 2 | Oct 18, 2024 |
| SVIL-AS1 | 2 | Oct 18, 2024 |
| TCAP | 1 | Oct 14, 2024 |
| TNNT2 | 2 | Oct 14, 2024 |
| TRIM63 | 7 | Oct 16, 2024 |
| VCL | 2 | Oct 14, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cardiomyopathy, familial hypertrophic 27 | 1 | Nov 23, 2022 |
| Hand-foot-genital syndrome | 2 | Nov 22, 2022 |
| Hypertrophic cardiomyopathy | 94 | Oct 18, 2024 |
| hyprtrophic cardiomyopathy | 1 | Oct 11, 2024 |