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: [email protected] - Felix Thierfelder, Informatics staff
Phone: +49 40 97 07 999 86
Email: [email protected] - Lisa von Wenserski, Variant scientist/curator
Phone: +49 40 97 07 999 88
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 43
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AIP | 1 | Jan 29, 2024 |
| ALS2 | 1 | Jan 29, 2024 |
| AR | 2 | Sep 17, 2024 |
| ATM | 1 | Sep 4, 2023 |
| ATXN1 | 1 | Sep 4, 2023 |
| BRCA2 | 2 | Jan 29, 2024 |
| CACNA1A | 1 | Sep 17, 2024 |
| CASR | 1 | Jul 5, 2023 |
| CDKN2B | 1 | Jul 5, 2023 |
| CDKN2B-AS1 | 1 | Jul 5, 2023 |
| DHTKD1 | 1 | Sep 4, 2023 |
| EGR2 | 1 | Sep 4, 2023 |
| FOXE1 | 1 | Oct 2, 2024 |
| FSHR | 1 | Oct 2, 2024 |
| GCK | 1 | Jan 29, 2024 |
| GP1BA | 1 | Sep 4, 2023 |
| HNF4A | 1 | Jan 29, 2024 |
| IQSEC2 | 1 | May 8, 2023 |
| KMT2C | 2 | Jul 5, 2023 |
| LOC130060903 | 1 | Jan 29, 2024 |
| NAGLU | 1 | Jan 29, 2024 |
| PKD1 | 2 | Jan 29, 2024 |
| PYGM | 1 | May 8, 2023 |
| SBF1 | 2 | Jan 29, 2024 |
| SBF2 | 1 | Jul 5, 2023 |
| SERPINA1 | 1 | Jan 29, 2024 |
| SLC5A5 | 1 | Oct 2, 2024 |
| SMARCA4 | 1 | Oct 2, 2024 |
| TTN | 11 | Oct 2, 2024 |
| TTN-AS1 | 4 | Oct 2, 2024 |
| ZFYVE26 | 1 | Jul 5, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alpha-1-antitrypsin deficiency | 1 | Jan 29, 2024 |
| Androgen resistance syndrome | 2 | Sep 17, 2024 |
| Bernard-Soulier syndrome, type A1 | 1 | Sep 4, 2023 |
| Malignant tumor of breast | 2 | Oct 2, 2024 |
| Maturity onset diabetes mellitus in young | 2 | Jan 29, 2024 |
| Pituitary adenoma predisposition | 1 | Jan 29, 2024 |
| Polycystic kidney disease, adult (ADPKD) | 2 | Jan 29, 2024 |
| congenital hypothyreodism | 2 | Oct 2, 2024 |
| not provided | 28 | Oct 2, 2024 |
| not specified | 2 | May 8, 2023 |