SIB Swiss Institute of Bioinformatics (Copenhagen University)
General information
SIB Swiss Institute of Bioinformatics
Copenhagen University
Blegdamsvej 3B
Copenhagen
Denmark - 2200
http://www.ku.dk
Organization ID: 506212
Copenhagen University
Blegdamsvej 3B
Copenhagen
Denmark - 2200
http://www.ku.dk
Organization ID: 506212
Personnel
- Mana Mehrjouy, Contact
Phone: +4571702817
Email: mana.mehdizade@gmail.com - Niels Tomerrup, Principal Investigator
Phone: +45 35327826
Email: ntommerup@sund.ku.dk
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 29
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADGRV1 | 1 | May 9, 2018 |
| ARHGAP42 | 1 | Oct 12, 2018 |
| ARID1B | 1 | May 9, 2018 |
| ARSJ | 1 | May 17, 2017 |
| ARV1 | 1 | May 9, 2018 |
| CAMKK1 | 1 | May 9, 2018 |
| CPEB2 | 1 | May 9, 2018 |
| CPQ | 1 | May 9, 2018 |
| DAPK1 | 1 | May 9, 2018 |
| EML6 | 1 | May 9, 2018 |
| EPHA3 | 1 | May 9, 2018 |
| FOXG1 | 3 | May 17, 2017 |
| FSTL5 | 1 | May 9, 2018 |
| INPP4B | 1 | May 9, 2018 |
| KIF21B | 1 | May 9, 2018 |
| LIN54 | 1 | May 9, 2018 |
| LIN7A | 1 | May 9, 2018 |
| LRRTM4 | 1 | May 9, 2018 |
| MMP16 | 1 | May 9, 2018 |
| NPAS3 | 1 | May 9, 2018 |
| PDE4DIP | 1 | May 9, 2018 |
| ST6GALNAC3 | 1 | May 9, 2018 |
| TRPC4 | 1 | May 9, 2018 |
| WDFY1 | 1 | May 17, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Rett syndrome, congenital variant | 3 | May 17, 2017 |
| not provided | 4 | Oct 12, 2018 |
| not specified | 22 | May 9, 2018 |