Department of Genetics, Reproduction and Fetal Medicine. (Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.)
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 17
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AHNAK | 2 | Apr 30, 2015 |
| C10orf55 | 1 | Apr 30, 2015 |
| CNTN5 | 1 | Apr 30, 2015 |
| CREBBP | 1 | Apr 30, 2015 |
| DPYD | 1 | Apr 30, 2015 |
| FAT3 | 1 | Apr 30, 2015 |
| FBN1 | 1 | Apr 30, 2015 |
| GFRA1 | 1 | Apr 30, 2015 |
| IRAK3 | 1 | Apr 30, 2015 |
| KDR | 1 | Apr 30, 2015 |
| NTF3 | 1 | Apr 30, 2015 |
| PLAU | 1 | Apr 30, 2015 |
| PTCH1 | 1 | Apr 30, 2015 |
| SEMA3D | 1 | Apr 30, 2015 |
| THBS4 | 1 | Apr 30, 2015 |
| THBS4-AS1 | 1 | Apr 30, 2015 |
| TSC2 | 1 | Apr 30, 2015 |
| ZHX2 | 1 | Apr 30, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hirschsprung disease, susceptibility to, 1 | 17 | Apr 30, 2015 |