Charité Universitätsmedizin Berlin (Charite Universitaetsmedizin Berlin), CVK
General information
Charité Universitätsmedizin Berlin, CVK
Charite Universitaetsmedizin Berlin
Augustenburger Platz 1
Berlin
Berlin
Germany - 13353
http://www.charite.de/
Organization ID: 505885
Charite Universitaetsmedizin Berlin
Augustenburger Platz 1
Berlin
Berlin
Germany - 13353
http://www.charite.de/
Organization ID: 505885
Personnel
- Markus Schuelke, Lab Director
Phone: 004930450566468
Email: [email protected] - Ellen Knierim, Staff
Phone: +4930450639725
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Congenital nongoitrous hypothyroidism 6 | 1 | Jan 8, 2021 |
| Congenital ptosis | 1 | May 5, 2020 |
| Fatigable weakness | 1 | May 5, 2020 |
| Increased muscle fatiguability | 1 | May 5, 2020 |
| Macrocephaly | 1 | May 5, 2020 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 | Nov 18, 2020 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Aug 9, 2016 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 4 | Dec 2, 2020 |
| Overgrowth | 1 | May 5, 2020 |
| not provided | 1 | Jan 3, 2017 |