Arcensus
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 82
Gene
| Gene | Submissions | Last Updated |
|---|
| ABCA4 | 4 | Aug 3, 2022 |
| ABCG5 | 1 | Aug 3, 2022 |
| ABCG8 | 1 | Aug 3, 2022 |
| ACTC1 | 1 | Aug 3, 2022 |
| AGXT | 2 | Aug 3, 2022 |
| APOB | 1 | Aug 3, 2022 |
| ATP7B | 7 | Aug 3, 2022 |
| BRCA1 | 1 | Aug 3, 2022 |
| BTD | 5 | Aug 3, 2022 |
| CFTR | 8 | Aug 3, 2022 |
| CFTR-AS1 | 3 | Aug 3, 2022 |
| CLCN1 | 1 | Aug 3, 2022 |
| COL7A1 | 2 | Aug 3, 2022 |
| COQ8B | 1 | Aug 3, 2022 |
| DNAH5 | 1 | Aug 3, 2022 |
| DSP | 1 | Aug 3, 2022 |
| DUOXA2 | 1 | Aug 3, 2022 |
| FBN1 | 2 | Aug 3, 2022 |
| GAA | 4 | Aug 3, 2022 |
| GALK1 | 1 | Aug 3, 2022 |
| GJD2-DT | 1 | Aug 3, 2022 |
| IMPG1 | 1 | Aug 3, 2022 |
| ITGB4 | 1 | Aug 3, 2022 |
| KCNQ1 | 2 | Aug 3, 2022 |
| LDLR | 4 | Aug 3, 2022 |
| LOC126861443 | 1 | Aug 3, 2022 |
| LOC126862571 | 1 | Aug 3, 2022 |
| MEFV | 1 | Aug 3, 2022 |
| MFAP5 | 1 | Aug 3, 2022 |
| MSH6 | 1 | Aug 3, 2022 |
| MUTYH | 1 | Aug 3, 2022 |
| MYBPC3 | 2 | Aug 3, 2022 |
| MYO1H | 1 | Aug 3, 2022 |
| PALB2 | 2 | Aug 3, 2022 |
| PCSK9 | 1 | Aug 3, 2022 |
| RB1 | 1 | Aug 3, 2022 |
| RYR1 | 4 | Aug 3, 2022 |
| SDHB | 1 | Aug 3, 2022 |
| SLC34A1 | 2 | Aug 3, 2022 |
| SLC7A9 | 1 | Aug 3, 2022 |
| STK11 | 1 | Aug 3, 2022 |
| THBD | 1 | Aug 3, 2022 |
| TMEM43 | 1 | Aug 3, 2022 |
| TNNT2 | 1 | Aug 3, 2022 |
| TSC1 | 1 | Aug 3, 2022 |
| TTN | 6 | Aug 3, 2022 |
| TTN-AS1 | 3 | Aug 3, 2022 |
| VWF | 1 | Aug 3, 2022 |
Condition
| Name | Submissions | Last Updated | | Age related macular degeneration 2 | 1 | Aug 3, 2022 |
| Aortic aneurysm, familial thoracic 9 | 1 | Aug 3, 2022 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 | Aug 3, 2022 |
| Arrhythmogenic right ventricular dysplasia 5 | 1 | Aug 3, 2022 |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 | Aug 3, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | Aug 3, 2022 |
| Biotinidase deficiency | 5 | Aug 3, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Aug 3, 2022 |
| Central core myopathy | 1 | Aug 3, 2022 |
| Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | 1 | Aug 3, 2022 |
| Congenital myotonia, autosomal recessive form | 1 | Aug 3, 2022 |
| Cystic fibrosis | 8 | Aug 3, 2022 |
| Cystinuria | 1 | Aug 3, 2022 |
| Desmin-related myofibrillar myopathy | 3 | Aug 3, 2022 |
| Dilated cardiomyopathy 1D | 1 | Aug 3, 2022 |
| Dilated cardiomyopathy 1G | 1 | Aug 3, 2022 |
| Dilated cardiomyopathy 1R | 1 | Aug 3, 2022 |
| Epidermolysis bullosa, junctional 5A, intermediate | 1 | Aug 3, 2022 |
| Familial Mediterranean fever | 1 | Aug 3, 2022 |
| Familial adenomatous polyposis 2 | 1 | Aug 3, 2022 |
| Familial cancer of breast | 2 | Aug 3, 2022 |
| Fanconi renotubular syndrome 2 | 1 | Aug 3, 2022 |
| Glycogen storage disease, type II | 4 | Aug 3, 2022 |
| Hypercholesterolemia, autosomal dominant, 3 | 1 | Aug 3, 2022 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Aug 3, 2022 |
| Hypercholesterolemia, familial, 1 | 4 | Aug 3, 2022 |
| Hypertrophic cardiomyopathy 4 | 2 | Aug 3, 2022 |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 1 | Aug 3, 2022 |
| Long QT syndrome 1 | 2 | Aug 3, 2022 |
| Lynch syndrome 5 | 1 | Aug 3, 2022 |
| Malignant hyperthermia, susceptibility to, 1 | 3 | Aug 3, 2022 |
| Marfan syndrome | 2 | Aug 3, 2022 |
| Mitochondrial complex 2 deficiency, nuclear type 4 | 1 | Aug 3, 2022 |
| Nephrotic syndrome, type 9 | 1 | Aug 3, 2022 |
| Peutz-Jeghers syndrome | 1 | Aug 3, 2022 |
| Primary ciliary dyskinesia 3 | 1 | Aug 3, 2022 |
| Primary hyperoxaluria, type I | 2 | Aug 3, 2022 |
| Recessive dystrophic epidermolysis bullosa | 2 | Aug 3, 2022 |
| Retinoblastoma | 1 | Aug 3, 2022 |
| Severe early-childhood-onset retinal dystrophy | 3 | Aug 3, 2022 |
| Sitosterolemia 1 | 1 | Aug 3, 2022 |
| Thyroglobulin synthesis defect | 1 | Aug 3, 2022 |
| Tuberous sclerosis 1 | 1 | Aug 3, 2022 |
| Vitelliform macular dystrophy 4 | 1 | Aug 3, 2022 |
| Wilson disease | 7 | Aug 3, 2022 |
| von Willebrand disease type 1 | 1 | Aug 3, 2022 |
