Genomics, Clalit Research Institute
(Clalit Health Care), CRI
General information
Genomics, Clalit Research Institute, CRI
Clalit Health Care
Tuval 40
Ramat Gan
Israel
Organization ID: 507920
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 55
Gene
| Gene | Submissions | Last Updated |
|---|
| ABCA1 | 1 | Jul 28, 2024 |
| ABCA3 | 1 | Aug 17, 2025 |
| ALDH3A2 | 1 | Aug 6, 2024 |
| AP3B1 | 1 | Jun 20, 2024 |
| APOB | 1 | Mar 18, 2025 |
| BARD1 | 1 | May 29, 2025 |
| BEST1 | 1 | May 22, 2025 |
| CACNA1A | 1 | May 22, 2025 |
| CACNA1F | 1 | May 7, 2025 |
| CACNB1 | 1 | Aug 6, 2025 |
| CHD2 | 1 | Jun 20, 2024 |
| CHD8 | 1 | Nov 25, 2024 |
| CLCN1 | 1 | Aug 6, 2024 |
| CNGB1 | 1 | Mar 12, 2025 |
| COL4A4 | 1 | Apr 10, 2024 |
| DNAAF3 | 1 | Sep 5, 2024 |
| DNAAF3-AS1 | 1 | Sep 5, 2024 |
| DNAH11 | 1 | Feb 10, 2025 |
| ELN | 1 | Mar 5, 2025 |
| GATA6 | 1 | Nov 28, 2024 |
| GCK | 1 | May 29, 2025 |
| GIGYF2 | 1 | Dec 18, 2024 |
| HYDIN | 1 | Jul 22, 2025 |
| IGSF1 | 1 | Jun 20, 2024 |
| KCNJ13 | 1 | Dec 18, 2024 |
| LOC100507346 | 1 | Feb 10, 2025 |
| LOC102724058 | 1 | Mar 18, 2025 |
| LZTR1 | 1 | Feb 18, 2025 |
| MCPH1 | 1 | Feb 25, 2025 |
| MED29 | 1 | Apr 17, 2025 |
| MYO7A | 1 | May 15, 2024 |
| NDUFS4 | 1 | Mar 25, 2025 |
| NF1 | 1 | Jan 28, 2025 |
| NHS | 1 | May 22, 2025 |
| OTOGL | 1 | Aug 3, 2025 |
| PANK4 | 1 | Aug 6, 2024 |
| PCNT | 1 | Jun 25, 2024 |
| PKD1 | 1 | Mar 5, 2025 |
| PKHD1 | 1 | Mar 20, 2025 |
| PRDM12 | 1 | Mar 25, 2025 |
| PTCH1 | 2 | Mar 18, 2025 |
| PTEN | 1 | Jun 20, 2024 |
| REEP1 | 1 | Aug 10, 2025 |
| SCN1A | 1 | Mar 18, 2025 |
| SCN1A-AS1 | 1 | Jan 12, 2025 |
| SCN8A | 1 | May 7, 2025 |
| SCN9A | 1 | Jan 12, 2025 |
| SKI | 1 | May 29, 2025 |
| SMAD6 | 1 | Jan 28, 2025 |
| SPAST | 1 | Jun 3, 2025 |
| SPRED1 | 1 | Dec 5, 2024 |
| TGFBR2 | 1 | Apr 23, 2025 |
| TNNT1 | 1 | Jun 13, 2024 |
| TRIM63 | 3 | Mar 21, 2024 |
| TTN | 2 | May 22, 2025 |
| TTN-AS1 | 2 | May 22, 2025 |
| VWF | 1 | Aug 10, 2025 |
Condition
| Name | Submissions | Last Updated | | Aland island eye disease | 1 | May 7, 2025 |
| Aortic valve disease 2 | 1 | Jan 28, 2025 |
| Autosomal dominant vitreoretinochoroidopathy | 1 | May 22, 2025 |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 | Aug 3, 2025 |
| Basal cell nevus syndrome 1 | 2 | Mar 18, 2025 |
| Cataract 40 | 1 | May 22, 2025 |
| Cataract 49 | 1 | Aug 6, 2024 |
| Congenital insensitivity to pain-hypohidrosis syndrome | 1 | Mar 25, 2025 |
| Congenital myotonia, autosomal recessive form | 1 | Aug 6, 2024 |
| Developmental and epileptic encephalopathy 94 | 1 | Jun 20, 2024 |
| Developmental and epileptic encephalopathy, 13 | 1 | May 7, 2025 |
| Dilated cardiomyopathy 1G | 2 | May 22, 2025 |
| Episodic ataxia type 2 | 1 | May 22, 2025 |
| Familial cancer of breast | 1 | May 29, 2025 |
| Familial hypobetalipoproteinemia 1 | 1 | Mar 18, 2025 |
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Mar 18, 2025 |
| Hematuria, benign familial, 1 | 1 | Apr 10, 2024 |
| Hereditary spastic paraplegia 31 | 1 | Aug 10, 2025 |
| Hereditary spastic paraplegia 4 | 1 | Jun 3, 2025 |
| Hermansky-Pudlak syndrome 2 | 1 | Jun 20, 2024 |
| Holoprosencephaly 7 | 1 | Feb 10, 2025 |
| Hypertrophic cardiomyopathy | 2 | Mar 21, 2024 |
| Idiopathic cardiomyopathy | 1 | Mar 21, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Nov 25, 2024 |
| Interstitial lung disease due to ABCA3 deficiency | 1 | Aug 17, 2025 |
| Legius syndrome | 1 | Dec 5, 2024 |
| Loeys-Dietz syndrome 2 | 1 | Apr 23, 2025 |
| Macrocephaly-autism syndrome | 1 | Jun 20, 2024 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Jun 25, 2024 |
| Microcephaly 1, primary, autosomal recessive | 1 | Feb 25, 2025 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Mar 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 | Aug 6, 2025 |
| Nemaline myopathy 5 | 1 | Jun 13, 2024 |
| Neurofibromatosis-Noonan syndrome | 1 | Jan 28, 2025 |
| Noonan syndrome 10 | 1 | Feb 18, 2025 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Nov 28, 2024 |
| Polycystic kidney disease 4 | 1 | Mar 20, 2025 |
| Polycystic kidney disease, adult type | 1 | Mar 5, 2025 |
| Primary ciliary dyskinesia 2 | 1 | Sep 5, 2024 |
| Primary ciliary dyskinesia 5 | 1 | Jul 22, 2025 |
| Primary ciliary dyskinesia 7 | 1 | Feb 10, 2025 |
| Primary erythromelalgia | 1 | Jan 12, 2025 |
| Retinitis pigmentosa | 1 | Dec 18, 2024 |
| Retinitis pigmentosa 45 | 1 | Mar 12, 2025 |
| Shprintzen-Goldberg syndrome | 1 | May 29, 2025 |
| Sjögren-Larsson syndrome | 1 | Aug 6, 2024 |
| Supravalvar aortic stenosis | 1 | Mar 5, 2025 |
| Tangier disease | 1 | Jul 28, 2024 |
| Type 2 diabetes mellitus | 1 | May 29, 2025 |
| Usher syndrome type 1 | 1 | May 15, 2024 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Jun 20, 2024 |
| pontocerebellar hypoplasia with cataract | 1 | Apr 17, 2025 |
| von Willebrand disease type 3 | 1 | Aug 10, 2025 |
