Core Molecular Diagnostic Lab (McGill University Health Centre), CMDL
General information
Core Molecular Diagnostic Lab, CMDL
McGill University Health Centre
1001 Decarie Boulevard
Montreal
Quebec
Canada - H4A 3J1
https://muhc.ca/laboratoires/profile/clinical-laboratories
Organization ID: 506763
McGill University Health Centre
1001 Decarie Boulevard
Montreal
Quebec
Canada - H4A 3J1
https://muhc.ca/laboratoires/profile/clinical-laboratories
Organization ID: 506763
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 21
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Nov 13, 2018 |
| Axon pathfinding, cardiac, ocular and genital defects | 9 | Sep 4, 2019 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 | Nov 20, 2018 |
| Corpus callosum, agenesis of | 9 | Sep 4, 2019 |
| Cystic fibrosis | 2 | Jul 9, 2019 |
| Ethylmalonic encephalopathy | 1 | Feb 12, 2019 |
| Hereditary spastic paraplegia 48 | 1 | Nov 13, 2018 |
| Hypomyelinating leukodystrophy 3 | 1 | Nov 16, 2018 |
| Non-small cell lung carcinoma | 1 | Jul 11, 2019 |
| Phenylketonuria | 1 | Nov 13, 2018 |
| Severe early-childhood-onset retinal dystrophy | 1 | Nov 20, 2018 |
| beta Thalassemia | 2 | Nov 20, 2018 |