Molecular Lab, Department of Haematology (Christian Medical College)
General information
Personnel
- Arun Arunachalam, Principal Investigator
Phone: +91 04162283562
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 28
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acromicric dysplasia | 1 | May 23, 2022 |
| Autosomal dominant osteopetrosis 2 | 2 | May 23, 2022 |
| Autosomal recessive osteopetrosis 1 | 14 | May 23, 2022 |
| Autosomal recessive osteopetrosis 2 | 1 | May 23, 2022 |
| Autosomal recessive osteopetrosis 4 | 2 | May 23, 2022 |
| Autosomal recessive osteopetrosis 7 | 4 | May 23, 2022 |
| Geleophysic dysplasia 2 | 1 | May 23, 2022 |
| Hereditary diffuse leukoencephalopathy with spheroids | 1 | May 23, 2022 |
| Metachondromatosis | 1 | May 23, 2022 |
| Vitamin D-dependent rickets type II with alopecia | 1 | May 23, 2022 |