Genetic Disease Research Branch / Genetics Development and Disease Section (National Human Genome Research Institute)
General information
Genetic Disease Research Branch / Genetics Development and Disease Section
National Human Genome Research Institute
49 Convent Dr
Bethesda
Maryland
United States - 20892
https://www.genome.gov/staff/Bill-J-Pavan-PhD
Organization ID: 507998
National Human Genome Research Institute
49 Convent Dr
Bethesda
Maryland
United States - 20892
https://www.genome.gov/staff/Bill-J-Pavan-PhD
Organization ID: 507998
Personnel
- David Adams, Medical Director
Phone: (301) 402-6435
Email: dadams1@mail.nih.gov - Stacie Loftus, Staff
Phone: 301-594-1752
Email: sloftus@mail.nih.gov - William Pavan, Principal Investigator
Phone: (301) 496-7584
Email: bpavan@mail.nih.gov
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| OCA2 | 2 | Mar 24, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Tyrosinase-positive oculocutaneous albinism | 2 | Mar 24, 2021 |