Dr. Alfred Bastarche Laboratory (Dr. Georges L. Dumont University Hospital Centre)
General information
Personnel
- Nicolas Crapoulet, Lab Associate Director
Phone: 15068693502
Email: [email protected] - Jean Mamelona, Coordinator
Phone: 15068693554
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 4
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ENTPD1 | 1 | Sep 19, 2018 |
| ENTPD1-AS1 | 1 | Sep 19, 2018 |
| MYH7 | 1 | Sep 5, 2018 |
| TTN | 2 | Oct 30, 2018 |
| TTN-AS1 | 2 | Oct 30, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hereditary spastic paraplegia 64 | 1 | Sep 19, 2018 |
| Hyaline body myopathy | 1 | Sep 5, 2018 |
| Limb-girdle muscular dystrophy | 2 | Oct 30, 2018 |