Undiagnosed Rare Disease Clinic (Indiana University School of Medicine), URDC
General information
Personnel
- Khurram Liaqat, Variant scientist/curator
Phone: 6462582338
Email: [email protected] - Francesco Vetrini, Lab Director
Phone: 7139356125
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 7
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATP6V1G2-DDX39B | 5 | Mar 8, 2023 |
| DDX39B | 5 | Mar 8, 2023 |
| MBTPS1 | 2 | Oct 11, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Neurodevelopmental disorder | 5 | Mar 8, 2023 |
| Spondyloepiphyseal dysplasia, kondo-fu type | 2 | Oct 11, 2023 |