Centre for Human Genetics
General information
Personnel
- Tejashwini Vittal Kumar, Contact
Phone: 919886128803
Email: teja.ash30@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 52
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Dyggve-Melchior-Clausen syndrome | 7 | Mar 18, 2021 |
| Glucose-6-phosphate transport defect | 5 | Feb 17, 2021 |
| Glycogen storage disease IXa1 | 1 | Mar 4, 2021 |
| Glycogen storage disease IXb | 3 | Mar 4, 2021 |
| Glycogen storage disease IXc | 4 | Mar 4, 2021 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 5 | Feb 17, 2021 |
| Glycogen storage disease type III | 21 | Sep 27, 2021 |
| Glycogen storage disease, type VI | 5 | Mar 4, 2021 |
| Smith-McCort dysplasia 2 | 1 | Mar 18, 2021 |