Pediatric Genetics (Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER))
General information
Personnel
- Anupriya Kaur, Staff
Phone: 09914285566
Email: anukaur.genetics@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 4
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Leber congenital amaurosis 1 | 1 | Sep 22, 2023 |
| Macular corneal dystrophy | 1 | Sep 30, 2023 |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 1 | Feb 10, 2024 |
| Mucolipidosis type IV | 1 | Jan 12, 2024 |