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: 144
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCG5 | 1 | May 28, 2026 |
| ACADVL | 2 | Oct 29, 2021 |
| ACTC1 | 1 | Jan 12, 2022 |
| ADGRE2 | 1 | Jul 3, 2026 |
| ALPK3 | 2 | May 29, 2026 |
| ANKRD11 | 2 | May 28, 2026 |
| APOB | 3 | May 29, 2026 |
| AUTS2 | 1 | May 28, 2026 |
| BAG3 | 1 | May 29, 2026 |
| BPTF | 1 | Jul 3, 2026 |
| BRAF | 1 | Aug 10, 2026 |
| CACNA1C | 1 | Sep 13, 2024 |
| CASR | 1 | May 29, 2026 |
| CBS | 1 | Oct 12, 2021 |
| CDKL5 | 1 | May 28, 2025 |
| CHD8 | 1 | May 28, 2026 |
| COL3A1 | 1 | Jul 3, 2026 |
| COL5A1 | 3 | May 29, 2026 |
| CRB2 | 2 | May 28, 2026 |
| CYP26C1 | 1 | May 29, 2026 |
| DLL4 | 1 | May 28, 2026 |
| DOCK6 | 2 | May 28, 2026 |
| DOCK6-AS1 | 1 | May 28, 2026 |
| DSP | 1 | May 29, 2026 |
| EXT2 | 1 | Jul 3, 2026 |
| FAM20A | 2 | May 29, 2026 |
| FBN1 | 5 | Sep 22, 2025 |
| FLCN | 1 | May 29, 2026 |
| FLNC | 1 | Jul 17, 2024 |
| FLVCR1 | 2 | Jul 3, 2026 |
| FTL | 1 | May 29, 2026 |
| GH-LCR | 1 | May 28, 2026 |
| GJD2-DT | 1 | Jan 12, 2022 |
| HFE | 2 | Oct 29, 2021 |
| HFE-AS1 | 1 | Oct 29, 2021 |
| JAG1 | 1 | May 28, 2026 |
| KCNH2 | 1 | May 29, 2026 |
| KCNJ2 | 1 | Oct 12, 2021 |
| KCNQ1 | 14 | Jul 3, 2026 |
| KMT2D | 1 | May 28, 2026 |
| L1CAM | 1 | May 28, 2026 |
| LDLR | 5 | Jul 3, 2026 |
| LMNA | 1 | Nov 8, 2023 |
| LOC126806426 | 1 | Sep 22, 2025 |
| LOC126861898 | 1 | Jun 3, 2022 |
| LOX | 1 | May 29, 2026 |
| MPZ | 3 | May 28, 2026 |
| MYBPC3 | 13 | Oct 20, 2025 |
| MYH7 | 9 | Jan 13, 2026 |
| NF1 | 1 | Oct 29, 2021 |
| NOTCH3 | 1 | Jul 3, 2026 |
| PANK2 | 1 | May 29, 2026 |
| PAX6 | 2 | May 29, 2026 |
| PKD1 | 2 | May 28, 2026 |
| PPP2R1A | 1 | May 28, 2026 |
| PRKAR1A | 2 | May 29, 2026 |
| PRKD1 | 1 | May 29, 2026 |
| PROK2 | 1 | May 28, 2026 |
| PTPN11 | 2 | May 2, 2023 |
| RBM20 | 1 | May 29, 2026 |
| RS1 | 1 | May 28, 2025 |
| SCLT1 | 1 | May 29, 2026 |
| SCN4A | 1 | May 28, 2026 |
| SCN5A | 2 | May 29, 2026 |
| SDHA | 1 | Oct 29, 2021 |
| SERPINC1 | 1 | May 2, 2023 |
| SGCA | 1 | May 29, 2026 |
| SIN3A | 1 | May 28, 2026 |
| SLC20A2 | 1 | Sep 13, 2024 |
| SMAD3 | 2 | May 29, 2026 |
| SPAST | 1 | May 28, 2026 |
| SRFBP1 | 1 | May 29, 2026 |
| TFAP2B | 1 | Nov 8, 2023 |
| TGFB2 | 1 | May 29, 2026 |
| TGFB3 | 1 | May 29, 2026 |
| TIA1 | 1 | May 29, 2026 |
| TM4SF20 | 1 | Jul 3, 2026 |
| TNNI3 | 1 | Feb 7, 2025 |
| TNXB | 1 | Oct 29, 2021 |
| TTN | 9 | Jul 3, 2026 |
| TTN-AS1 | 8 | Sep 22, 2025 |
| TWIST1 | 1 | Jul 3, 2026 |
| TWNK | 1 | May 29, 2026 |
| UBAP1 | 1 | May 28, 2026 |
| VPS13A | 1 | May 28, 2026 |
| VWA1 | 1 | May 28, 2026 |