The Genetics Institute (Rambam Health Care Campus), GEN-RBM
General information
The Genetics Institute, GEN-RBM
Rambam Health Care Campus
HaAliya HaShniya St 8
Haifa
Israel - 3109601
https://www.rambam.org.il/englishsite/departments/laboratoryservices/GeneticsInstitute/Pages/default.aspx
Organization ID: 506047
Rambam Health Care Campus
HaAliya HaShniya St 8
Haifa
Israel - 3109601
https://www.rambam.org.il/englishsite/departments/laboratoryservices/GeneticsInstitute/Pages/default.aspx
Organization ID: 506047
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 18
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALDH1A3 | 1 | May 10, 2013 |
| CARMIL2 | 1 | Sep 17, 2018 |
| CD55 | 1 | Jun 14, 2017 |
| CDKN1C | 1 | Sep 30, 2020 |
| GATB | 2 | May 13, 2018 |
| GATC | 1 | May 13, 2018 |
| HNRNPK | 1 | May 13, 2018 |
| HNRNPK-AS1 | 1 | May 13, 2018 |
| KDM2B | 1 | Jul 8, 2020 |
| LOC112163529 | 1 | May 13, 2018 |
| MORC2 | 1 | Dec 4, 2019 |
| MYH7 | 1 | Jan 31, 2024 |
| PCNT | 1 | Mar 7, 2019 |
| QRSL1 | 4 | May 13, 2018 |
| SENP7 | 1 | May 7, 2023 |
| TNNC1 | 1 | Jan 31, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Au-Kline syndrome | 1 | May 13, 2018 |
| Beckwith-Wiedemann syndrome | 1 | Sep 30, 2020 |
| Cardiomyopathy, mitochondrial | 7 | May 13, 2018 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Dec 4, 2019 |
| Chronic colitis | 1 | Sep 17, 2018 |
| Combined immunodeficiency | 1 | Sep 17, 2018 |
| Dilated cardiomyopathy 1S | 1 | Jan 31, 2024 |
| Dilated cardiomyopathy 1Z | 1 | Jan 31, 2024 |
| Global developmental delay | 1 | Jul 8, 2020 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Mar 7, 2019 |
| Microcephaly | 1 | Jul 8, 2020 |
| Protein-losing enteropathy | 1 | Jun 14, 2017 |
| arthrogryposis multiplex congenita with neutropenia and early respiratory failure | 1 | May 7, 2023 |
| not provided | 1 | May 10, 2013 |