Institute for Clinical Chemistry and Laboratory Medicine (University Medical Center Mainz)
General information
Institute for Clinical Chemistry and Laboratory Medicine
University Medical Center Mainz
Mainz
Germany - 55131
https://www.unimedizin-mainz.de/zentrallabor/startseite.html
Organization ID: 508830
University Medical Center Mainz
Mainz
Germany - 55131
https://www.unimedizin-mainz.de/zentrallabor/startseite.html
Organization ID: 508830
Personnel
- Anke Adenaeuer, Staff
Phone: +496131176904
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 15
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Bernard Soulier syndrome | 1 | Sep 5, 2023 |
| Hereditary spherocytosis type 4 | 1 | Sep 5, 2023 |
| High molecular weight kininogen deficiency | 5 | Sep 5, 2023 |
| Inherited prekallikrein deficiency | 6 | Dec 14, 2022 |
| Islet cell adenomatosis | 1 | Sep 5, 2023 |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | 1 | Sep 5, 2023 |