Molecular Medicine Center (Medical University of Sofia), MMC
General information
Molecular Medicine Center, MMC
Medical University of Sofia
2 zdrave str.
Sofia
Bulgaria - 1431
http://www.mmcbg.org
Organization ID: 506095
Medical University of Sofia
2 zdrave str.
Sofia
Bulgaria - 1431
http://www.mmcbg.org
Organization ID: 506095
Personnel
- Laboratory Contact, Contact
Phone: +359889906150
Email: lab.info@mmcbg.org - Nevyana Ivanova, Contact
Phone: +359889906150
Email: nivanova@mmcbg.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alport syndrome | 1 | Jun 20, 2019 |
| Benign familial hematuria | 1 | Jun 20, 2019 |
| Drash syndrome | 1 | Jul 1, 2020 |
| Familial visceral amyloidosis, Ostertag type | 1 | Aug 3, 2020 |
| Frasier syndrome | 1 | Jul 1, 2020 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | Aug 3, 2020 |
| Nephronophthisis 3 | 1 | Apr 12, 2017 |
| Neurofibromatosis, type 1 | 1 | Feb 7, 2022 |
| Primary hyperoxaluria, type I | 1 | Jul 15, 2020 |
| Townes-Brocks syndrome 1 | 1 | Aug 17, 2020 |
| X-linked Alport syndrome | 2 | Jun 30, 2020 |