Clinical Genetics Laboratory (Region Ostergotland), KlingenDC
General information
Clinical Genetics Laboratory, KlingenDC
Region Ostergotland
University Hospital
Linkoping
Sweden - S-58185
http://www.regionostergotland.se/
Organization ID: 506101
Region Ostergotland
University Hospital
Linkoping
Sweden - S-58185
http://www.regionostergotland.se/
Organization ID: 506101
Personnel
- Josefine Ahsberg, Staff
Phone: +46101033163
Email: josefine.ahsberg@regionostergotland.se - Hanna Klang Arstrand, Staff
Phone: +46101033163
Email: hanna.klang.arstrand@regionostergotland.se
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 74
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACADVL | 2 | Oct 29, 2021 |
| ACTC1 | 1 | Jan 12, 2022 |
| ALPK3 | 1 | Mar 1, 2022 |
| APOB | 2 | Sep 13, 2024 |
| BAG3 | 1 | Nov 21, 2024 |
| CACNA1C | 1 | Sep 13, 2024 |
| CASR | 1 | Nov 22, 2024 |
| CBS | 1 | Oct 12, 2021 |
| COL5A1 | 1 | Mar 1, 2022 |
| FBN1 | 4 | Nov 21, 2024 |
| FLNC | 1 | Jul 17, 2024 |
| FTL | 1 | Nov 22, 2024 |
| GJD2-DT | 1 | Jan 12, 2022 |
| HFE | 2 | Oct 29, 2021 |
| HFE-AS1 | 1 | Oct 29, 2021 |
| KCNH2 | 1 | Nov 22, 2024 |
| KCNJ2 | 1 | Oct 12, 2021 |
| KCNQ1 | 10 | Sep 13, 2024 |
| LDLR | 4 | Nov 22, 2024 |
| LMNA | 1 | Nov 8, 2023 |
| LOC126861898 | 1 | Jun 3, 2022 |
| MYBPC3 | 11 | Jun 3, 2022 |
| MYH7 | 5 | Jun 3, 2022 |
| NF1 | 1 | Oct 29, 2021 |
| PAX6 | 1 | Sep 18, 2024 |
| PKD1 | 1 | Nov 8, 2023 |
| PTPN11 | 2 | May 2, 2023 |
| SCLT1 | 1 | Sep 18, 2024 |
| SCN5A | 1 | Mar 1, 2022 |
| SDHA | 1 | Oct 29, 2021 |
| SERPINC1 | 1 | May 2, 2023 |
| SGCA | 1 | Sep 18, 2024 |
| SLC20A2 | 1 | Sep 13, 2024 |
| SMAD3 | 1 | Sep 13, 2024 |
| TFAP2B | 1 | Nov 8, 2023 |
| TGFB3 | 1 | Nov 22, 2024 |
| TNNI3 | 1 | Sep 13, 2024 |
| TNXB | 1 | Oct 29, 2021 |
| TTN | 6 | Sep 13, 2024 |
| TTN-AS1 | 6 | Sep 13, 2024 |