School of Computer Science (University of Waterloo)
General information
School of Computer Science
University of Waterloo
200 University Avenue West
Waterloo
Ontario
Canada - N2L 3G1
https://cs.uwaterloo.ca/
Organization ID: 508068
University of Waterloo
200 University Avenue West
Waterloo
Ontario
Canada - N2L 3G1
https://cs.uwaterloo.ca/
Organization ID: 508068
Personnel
- Ngoc Hieu Tran, Principal Investigator
Phone: +12269295035
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 10
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive ataxia, Beauce type | 1 | May 6, 2021 |
| Cataract 13 with adult I phenotype | 1 | May 6, 2021 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | May 6, 2021 |
| Fraser syndrome 1 | 1 | May 6, 2021 |
| Hemochromatosis type 1 | 1 | May 6, 2021 |
| Joubert syndrome 6 | 1 | May 6, 2021 |
| MHC class II deficiency | 1 | May 6, 2021 |
| Neutral lipid storage myopathy | 1 | May 6, 2021 |
| Retinitis pigmentosa 88 | 2 | May 6, 2021 |