Molecular Genetics (University Hospital Bordeaux)
General information
Personnel
- Benoit Arveiler, Principal Investigator
Phone: 33557820355
Email: benoit.arveiler@chu-bordeaux.fr - Eulalie Lasseaux, Principal Investigator
Phone: 33557820193
Email: eulalie.lasseaux@chu-bordeaux.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 13
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Hermansky-Pudlak syndrome 1 | 1 | Jun 4, 2024 |
Oculocutaneous albinism type 3 | 2 | Jun 5, 2024 |
Oculocutaneous albinism type 4 | 1 | Jun 4, 2024 |
Tyrosinase-negative oculocutaneous albinism | 3 | Aug 6, 2024 |
Tyrosinase-positive oculocutaneous albinism | 6 | Jun 4, 2024 |