Clinical Genetics Laboratory (Federal University of Health Sciences of Porto Alegre)
General information
Clinical Genetics Laboratory
Federal University of Health Sciences of Porto Alegre
Sarmento Leite 245/403
Porto Alegre
Rio Grande do Sul
Brazil - 90050-170
http://www.ufcspa.edu.br
Organization ID: 506914
Federal University of Health Sciences of Porto Alegre
Sarmento Leite 245/403
Porto Alegre
Rio Grande do Sul
Brazil - 90050-170
http://www.ufcspa.edu.br
Organization ID: 506914
Personnel
- Marilu Fiegenbaum, Lab Associate Director
Phone: 51992413666
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant Kenny-Caffey syndrome | 1 | Jun 4, 2019 |
| Fibrous dysplasia of jaw | 1 | May 22, 2019 |
| Holoprosencephaly 1 | 1 | Mar 27, 2019 |
| Marshall-Smith syndrome | 1 | May 21, 2019 |
| Pfeiffer syndrome | 1 | Jun 4, 2019 |