Genomics, Clalit Research Institute (Clalit Health Care), CRI
General information
Personnel
- Shay Ben-Shachar, Principal Investigator
Phone: 972527360050
Email: [email protected] - Karin Kfir, Variant scientist/curator
Phone: 972502111966
Email: [email protected] - Mor Lev, Variant scientist/curator
Phone: 9727360929
Email: [email protected] - Dina Yagel, Variant scientist/curator
Phone: 972526559116
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 18
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA1 | 1 | Jul 28, 2024 |
| ALDH3A2 | 1 | Aug 6, 2024 |
| AP3B1 | 1 | Jun 20, 2024 |
| CHD2 | 1 | Jun 20, 2024 |
| CLCN1 | 1 | Aug 6, 2024 |
| COL4A4 | 1 | Apr 10, 2024 |
| DNAAF3 | 1 | Sep 5, 2024 |
| DNAAF3-AS1 | 1 | Sep 5, 2024 |
| IGSF1 | 1 | Jun 20, 2024 |
| MYO7A | 1 | May 15, 2024 |
| NDUFS4 | 1 | Jan 23, 2023 |
| PANK4 | 1 | Aug 6, 2024 |
| PCNT | 1 | Jun 25, 2024 |
| PTEN | 1 | Jun 20, 2024 |
| TNNT1 | 1 | Jun 13, 2024 |
| TRIM63 | 3 | Mar 21, 2024 |
| TTN | 1 | May 21, 2024 |
| TTN-AS1 | 1 | May 21, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cataract 49 | 1 | Aug 6, 2024 |
| Congenital myotonia, autosomal recessive form | 1 | Aug 6, 2024 |
| Developmental and epileptic encephalopathy 94 | 1 | Jun 20, 2024 |
| Dilated cardiomyopathy 1G | 1 | May 21, 2024 |
| Hematuria, benign familial, 1 | 1 | Apr 10, 2024 |
| Hermansky-Pudlak syndrome 2 | 1 | Jun 20, 2024 |
| Hypertrophic cardiomyopathy | 2 | Mar 21, 2024 |
| Idiopathic cardiomyopathy | 1 | Mar 21, 2024 |
| Macrocephaly-autism syndrome | 1 | Jun 20, 2024 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Jun 25, 2024 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Jan 23, 2023 |
| Nemaline myopathy 5 | 1 | Jun 13, 2024 |
| Primary ciliary dyskinesia 2 | 1 | Sep 5, 2024 |
| Sjögren-Larsson syndrome | 1 | Aug 6, 2024 |
| Tangier disease | 1 | Jul 28, 2024 |
| Usher syndrome type 1 | 1 | May 15, 2024 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Jun 20, 2024 |