Centre for Clinical Genetics and Genomic Diagnostics (Zealand University Hospital)
General information
Personnel
- Eskild Morten Landt, Variant scientist/curator
Phone: 60184149
Email: [email protected] - Thomas Lindestrand-Hansen, Variant scientist/curator
Phone: 93569806
Email: [email protected] - Heidi Hvid Nielsen, Variant scientist/curator
Phone: 30576922
Email: [email protected] - Sarah Søs Poulsen, Variant scientist/curator
Phone: 21827217
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 83
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAGAB | 1 | Sep 5, 2024 |
| ALPL | 1 | Sep 5, 2024 |
| ANK1 | 1 | Sep 5, 2024 |
| AP5Z1 | 2 | Sep 5, 2024 |
| APOB | 1 | Sep 5, 2024 |
| ASXL1 | 2 | Sep 5, 2024 |
| ATM | 1 | Sep 5, 2024 |
| ATRIP | 1 | Sep 5, 2024 |
| ATRIP-TREX1 | 1 | Sep 5, 2024 |
| BRCA1 | 1 | Sep 5, 2024 |
| BRCA2 | 3 | Sep 5, 2024 |
| BRIP1 | 1 | Sep 5, 2024 |
| CACNA1E | 1 | Sep 5, 2024 |
| CALR | 1 | Sep 5, 2024 |
| CAPN3 | 1 | Sep 5, 2024 |
| CASR | 1 | Sep 5, 2024 |
| CCDST | 5 | Sep 5, 2024 |
| CHD1 | 1 | Sep 5, 2024 |
| CHD7 | 1 | Sep 5, 2024 |
| CHD8 | 1 | Sep 5, 2024 |
| COL1A1 | 1 | Sep 5, 2024 |
| COL4A1 | 1 | Sep 5, 2024 |
| COL7A1 | 2 | Sep 5, 2024 |
| CYP24A1 | 1 | Sep 5, 2024 |
| DLG4 | 1 | Sep 5, 2024 |
| EDAR | 2 | Sep 5, 2024 |
| EIF2AK3 | 1 | Sep 5, 2024 |
| EP300 | 1 | Sep 5, 2024 |
| F2 | 1 | Sep 5, 2024 |
| FGF12 | 1 | Sep 5, 2024 |
| FLG | 5 | Sep 5, 2024 |
| FRYL | 1 | Sep 5, 2024 |
| FTCD | 1 | Sep 5, 2024 |
| GABRG2 | 1 | Sep 5, 2024 |
| GHR | 1 | Sep 5, 2024 |
| GRIK2 | 1 | Sep 5, 2024 |
| HBB | 1 | Sep 5, 2024 |
| HNF4A | 1 | Sep 5, 2024 |
| INSL6 | 1 | Sep 5, 2024 |
| INSR | 1 | Sep 5, 2024 |
| ITGA2B | 1 | Sep 5, 2024 |
| JAK2 | 1 | Sep 5, 2024 |
| KCNQ2 | 1 | Sep 5, 2024 |
| KCNQ5 | 1 | Sep 5, 2024 |
| KCNT1 | 1 | Sep 5, 2024 |
| KLK11 | 1 | Sep 5, 2024 |
| KRT14 | 1 | Sep 5, 2024 |
| LOC106099062 | 1 | Sep 5, 2024 |
| LOC107133510 | 1 | Sep 5, 2024 |
| LOC126862264 | 1 | Sep 5, 2024 |
| LOC126863253 | 1 | Sep 5, 2024 |
| LOXHD1 | 1 | Sep 5, 2024 |
| MECOM | 1 | Sep 5, 2024 |
| MEFV | 2 | Sep 5, 2024 |
| MFN2 | 1 | Sep 5, 2024 |
| MT-ND1 | 1 | Sep 5, 2024 |
| MT-RNR1 | 1 | Sep 5, 2024 |
| MT-TL1 | 1 | Sep 5, 2024 |
| MYO7A | 1 | Sep 5, 2024 |
| NOTCH3 | 1 | Sep 5, 2024 |
| OPA1 | 1 | Sep 5, 2024 |
| OTOGL | 1 | Sep 5, 2024 |
| PKD1 | 1 | Sep 5, 2024 |
| RANBP2 | 2 | Sep 5, 2024 |
| SERPINA1 | 1 | Sep 5, 2024 |
| SLC12A6 | 1 | Sep 5, 2024 |
| SLC26A4 | 2 | Sep 5, 2024 |
| SMAD2 | 1 | Sep 5, 2024 |
| SMC3 | 1 | Sep 5, 2024 |
| SPRED1 | 1 | Sep 5, 2024 |
| TET2 | 1 | Sep 5, 2024 |
| TET2-AS1 | 1 | Sep 5, 2024 |
| TNFRSF13B | 1 | Sep 5, 2024 |
| TREX1 | 1 | Sep 5, 2024 |
| UBA1 | 1 | Sep 5, 2024 |
| UCP2 | 1 | Sep 5, 2024 |
| ZRSR2 | 3 | Sep 5, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| not provided | 83 | Sep 5, 2024 |