Institute of Human Genetics (University Medical Center Hamburg-Eppendorf), UKE
General information
Personnel
- Georg Rosenberger, Principal Investigator
Phone: +4940741054534
Email: rosenberger@uke.de
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- Submitter's publication
Summary of submissions to ClinVar
Total submissions: 45
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AP4B1 | 1 | Feb 24, 2014 |
| AP4B1-AS1 | 1 | Feb 24, 2014 |
| CHAMP1 | 4 | Aug 13, 2015 |
| COL2A1 | 3 | Apr 22, 2021 |
| COL3A1 | 1 | Dec 10, 2018 |
| FBN1 | 23 | Dec 10, 2018 |
| FBN2 | 1 | Dec 10, 2018 |
| HRAS | 1 | Dec 9, 2021 |
| LOX | 1 | Dec 10, 2018 |
| LRRC56 | 1 | Dec 9, 2021 |
| MYH11 | 2 | Jan 23, 2019 |
| SMAD3 | 5 | Dec 10, 2018 |
| SRFBP1 | 1 | Dec 10, 2018 |
| TGFBR1 | 2 | Dec 10, 2018 |
| TGFBR2 | 1 | Dec 10, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Congenital contractural arachnodactyly | 1 | Dec 10, 2018 |
| Costello syndrome | 1 | Dec 9, 2021 |
| Ehlers-Danlos syndrome, classic type | 1 | Dec 10, 2018 |
| Ehlers-Danlos syndrome, type 4 | 1 | Dec 10, 2018 |
| Familial thoracic aortic aneurysm and aortic dissection | 14 | Dec 10, 2018 |
| Hereditary spastic paraplegia 47 | 1 | Feb 24, 2014 |
| MASS syndrome | 3 | Apr 22, 2021 |
| Marfan syndrome | 18 | Dec 10, 2018 |
| Visceral myopathy 1 | 1 | Jan 23, 2019 |
| intellectual disability with severe speech impairment | 4 | Aug 13, 2015 |