Gemeinschaftspraxis fuer Humangenetik Dresden, GP fuer Humangenetik DD
General information
Gemeinschaftspraxis fuer Humangenetik Dresden, GP fuer Humangenetik DD
Dresden
Germany
Organization ID: 508479
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 24
Gene
| Gene | Submissions | Last Updated |
|---|
| ACVRL1 | 1 | Jul 13, 2022 |
| BRCA1 | 1 | Mar 20, 2023 |
| COL4A1 | 1 | Jan 31, 2024 |
| COL5A2 | 1 | Sep 26, 2022 |
| DPYS | 2 | Feb 1, 2024 |
| GCK | 1 | May 14, 2023 |
| GLI3 | 1 | Sep 29, 2022 |
| HNF4A | 1 | Feb 1, 2024 |
| HSPB1 | 1 | May 14, 2023 |
| LITAF | 1 | May 14, 2023 |
| LOC126862571 | 1 | Mar 20, 2023 |
| LRSAM1 | 1 | Dec 16, 2022 |
| NEFH | 1 | Feb 1, 2024 |
| NF1 | 1 | Jan 31, 2024 |
| PALB2 | 1 | Apr 20, 2022 |
| PAX3 | 1 | Apr 20, 2022 |
| SBF1 | 1 | Feb 1, 2024 |
| SBF2 | 1 | Jan 31, 2024 |
| SCN5A | 1 | Dec 16, 2022 |
| SDHC | 1 | Apr 21, 2022 |
| SH3BP2 | 1 | Apr 21, 2022 |
| TCOF1 | 1 | May 14, 2023 |
| TSC1 | 1 | Feb 1, 2024 |
| TSC2 | 1 | Apr 20, 2022 |
Condition
| Name | Submissions | Last Updated | | Brain small vessel disease 1 with or without ocular anomalies | 1 | Jan 31, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Mar 20, 2023 |
| Brugada syndrome 1 | 1 | Dec 16, 2022 |
| Charcot-Marie-Tooth disease axonal type 2CC | 1 | Feb 1, 2024 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | May 14, 2023 |
| Charcot-Marie-Tooth disease axonal type 2P | 1 | Dec 16, 2022 |
| Charcot-Marie-Tooth disease type 1C | 1 | May 14, 2023 |
| Charcot-Marie-Tooth disease type 4B2 | 1 | Jan 31, 2024 |
| Charcot-Marie-Tooth disease type 4B3 | 1 | Feb 1, 2024 |
| Dihydropyrimidinase deficiency | 2 | Feb 1, 2024 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Sep 26, 2022 |
| Familial cancer of breast | 1 | Apr 20, 2022 |
| Fibrous dysplasia of jaw | 1 | Apr 21, 2022 |
| Maturity-onset diabetes of the young type 1 | 1 | Feb 1, 2024 |
| Neurofibromatosis, type 1 | 1 | Jan 31, 2024 |
| Pallister-Hall syndrome | 1 | Sep 29, 2022 |
| Paragangliomas 3 | 1 | Apr 21, 2022 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Jul 13, 2022 |
| Treacher Collins syndrome 1 | 1 | May 14, 2023 |
| Tuberous sclerosis 1 | 1 | Feb 1, 2024 |
| Tuberous sclerosis 2 | 1 | Apr 20, 2022 |
| Type 2 diabetes mellitus | 1 | May 14, 2023 |
| Waardenburg syndrome type 1 | 1 | Apr 20, 2022 |
