Molecular Genetics (Labor Dr. Heidrich & Kollegen MVZ GmbH)
General information
Molecular Genetics
Labor Dr. Heidrich & Kollegen MVZ GmbH
Klinikweg 23
Hamburg
Hamburg
Germany - 22081
https://www.labor-heidrich.de/
Organization ID: 509080
Labor Dr. Heidrich & Kollegen MVZ GmbH
Klinikweg 23
Hamburg
Hamburg
Germany - 22081
https://www.labor-heidrich.de/
Organization ID: 509080
Personnel
- Niels Storm, Lab Director
Phone: +49 40 97 07 999 81
Email: storm@labor-heidrich.de - Felix Thierfelder, Informatics staff
Phone: +49 40 97 07 999 86
Email: thierfelder@labor-heidrich.de - Lisa von Wenserski, Variant scientist/curator
Phone: +49 40 97 07 999 88
Email: wenserski@labor-heidrich.de
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 69
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AIP | 1 | Jan 29, 2024 |
| ALMS1 | 1 | May 15, 2025 |
| ALPL | 2 | Nov 25, 2024 |
| ALS2 | 1 | Jan 29, 2024 |
| AR | 3 | Jan 17, 2025 |
| ATM | 1 | Sep 4, 2023 |
| ATXN1 | 1 | Sep 4, 2023 |
| AVPR2 | 1 | May 15, 2025 |
| BMPER | 1 | May 15, 2025 |
| BRCA2 | 2 | Jan 29, 2024 |
| CACNA1A | 1 | Sep 17, 2024 |
| CASR | 2 | Jan 17, 2025 |
| CDKN2B | 1 | Jul 5, 2023 |
| CDKN2B-AS1 | 1 | Jul 5, 2023 |
| CPSF3 | 1 | May 15, 2025 |
| DHTKD1 | 1 | Sep 4, 2023 |
| EGR2 | 1 | Sep 4, 2023 |
| EPOR | 1 | May 15, 2025 |
| F13B | 1 | Nov 25, 2024 |
| F7 | 1 | May 15, 2025 |
| F9 | 1 | Mar 27, 2025 |
| FBN1 | 1 | Jan 17, 2025 |
| FOXE1 | 1 | Oct 2, 2024 |
| FSHR | 1 | Oct 2, 2024 |
| GCK | 1 | Jan 29, 2024 |
| GNAS | 1 | Mar 27, 2025 |
| GP1BA | 1 | Sep 4, 2023 |
| HIVEP2 | 1 | May 15, 2025 |
| HNF4A | 1 | Jan 29, 2024 |
| IQSEC2 | 1 | May 8, 2023 |
| ITGB3 | 1 | Mar 27, 2025 |
| KIAA1549 | 1 | Jan 17, 2025 |
| KMT2C | 2 | Jul 5, 2023 |
| LOC130060903 | 1 | Jan 29, 2024 |
| MYO18B | 1 | May 15, 2025 |
| NAGLU | 1 | Jan 29, 2024 |
| NARS1 | 1 | May 15, 2025 |
| PHEX | 1 | Nov 25, 2024 |
| PKD1 | 2 | Jan 29, 2024 |
| PROC | 1 | May 15, 2025 |
| PYGM | 1 | May 8, 2023 |
| RBCK1 | 1 | May 15, 2025 |
| RPGRIP1L | 1 | May 15, 2025 |
| SBF1 | 2 | Jan 29, 2024 |
| SBF2 | 1 | Jul 5, 2023 |
| SDHB | 1 | Jan 17, 2025 |
| SERPINA1 | 1 | Jan 29, 2024 |
| SLC5A5 | 1 | Oct 2, 2024 |
| SMARCA4 | 1 | Oct 2, 2024 |
| THRB | 1 | Mar 27, 2025 |
| TTN | 12 | May 15, 2025 |
| TTN-AS1 | 4 | Oct 2, 2024 |
| ZFYVE26 | 1 | Jul 5, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alpha-1-antitrypsin deficiency | 1 | Jan 29, 2024 |
| Alström Syndrom | 1 | May 15, 2025 |
| Androgen resistance syndrome | 3 | Jan 17, 2025 |
| Bernard-Soulier syndrome, type A1 | 1 | Sep 4, 2023 |
| Factor VII deficiency | 1 | May 15, 2025 |
| Factor XIII deficiency | 1 | Nov 25, 2024 |
| Glanzmann thrombasthenia | 1 | Mar 27, 2025 |
| HP:0000750; HP:0001263 | 1 | May 15, 2025 |
| HP:0001252; HP:0001776; HP:0000252; HP:0001270; HP:0000592 | 1 | May 15, 2025 |
| HP:0003473; HP:0000508 | 1 | May 15, 2025 |
| HP:0003549 | 2 | May 15, 2025 |
| Hypercalcaemia, hypocalciuric | 1 | Jan 17, 2025 |
| Hypophosphatasia | 2 | Nov 25, 2024 |
| Hypophosphatemia | 1 | Nov 25, 2024 |
| Malignant tumor of breast | 2 | Oct 2, 2024 |
| Marfan syndrome | 1 | Jan 17, 2025 |
| Maturity onset diabetes mellitus in young | 2 | Jan 29, 2024 |
| Nephrogenic diabetes insipidus | 1 | May 15, 2025 |
| PHP Type 1a / PPHP | 1 | Mar 27, 2025 |
| Paragangliome / Pheochromocytome | 1 | Jan 17, 2025 |
| Pituitary adenoma predisposition | 1 | Jan 29, 2024 |
| Polycystic kidney disease, adult (ADPKD) | 2 | Jan 29, 2024 |
| Polyglucosanbody Myopathy Typ 1 | 1 | May 15, 2025 |
| Primary familial polycythemia due to EPO receptor mutation | 1 | May 15, 2025 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 1 | May 15, 2025 |
| congenital hypothyreodism | 2 | Oct 2, 2024 |
| haemophilia B | 1 | Mar 27, 2025 |
| not provided | 31 | May 15, 2025 |
| not specified | 2 | May 8, 2023 |
| resistance to thyroid hormone (RTH) | 1 | Mar 27, 2025 |