National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program (National Institutes of Health), NIAID_CSP
General information
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, NIAID_CSP
National Institutes of Health
10 Center Drive, Room 11C207
Bethesda
Maryland
United States - 20892-1892
Organization ID: 508106
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 71
Gene
| Gene | Submissions | Last Updated |
|---|
| AIRE | 33 | Mar 24, 2025 |
| APOB | 1 | May 28, 2022 |
| ATP7B | 2 | May 28, 2022 |
| BRCA1 | 2 | May 28, 2022 |
| BRCA2 | 5 | May 28, 2022 |
| DSC2 | 1 | May 28, 2022 |
| DSP | 1 | May 28, 2022 |
| FBN1 | 1 | May 28, 2022 |
| LDLR | 6 | May 28, 2022 |
| LOC107303340 | 1 | May 28, 2022 |
| MUTYH | 1 | May 28, 2022 |
| MYBPC3 | 2 | May 28, 2022 |
| MYH7 | 2 | May 28, 2022 |
| PALB2 | 1 | May 28, 2022 |
| PKP2 | 2 | May 28, 2022 |
| RYR1 | 3 | May 28, 2022 |
| SCN5A | 1 | May 28, 2022 |
| SMAD3 | 1 | May 28, 2022 |
| SMAD4 | 1 | May 28, 2022 |
| TGFBR2 | 2 | May 28, 2022 |
| VHL | 1 | May 28, 2022 |
| ZAP70 | 2 | Mar 24, 2025 |
Condition
| Name | Submissions | Last Updated | | Aneurysm-osteoarthritis syndrome | 1 | May 28, 2022 |
| Arrhythmogenic right ventricular cardiomyopathy | 2 | May 28, 2022 |
| Arrhythmogenic right ventricular dysplasia 11 | 1 | May 28, 2022 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | May 28, 2022 |
| Breast cancer, susceptibility to | 1 | May 28, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 | May 28, 2022 |
| Brugada syndrome | 1 | May 28, 2022 |
| Combined immunodeficiency due to ZAP70 deficiency | 2 | Mar 24, 2025 |
| Familial adenomatous polyposis 2 | 1 | May 28, 2022 |
| Familial hypercholesterolemia | 7 | May 28, 2022 |
| Hereditary breast ovarian cancer syndrome | 6 | May 28, 2022 |
| Hypertrophic cardiomyopathy | 3 | May 28, 2022 |
| Hypertrophic cardiomyopathy 1 | 1 | May 28, 2022 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 | May 28, 2022 |
| Loeys-Dietz syndrome | 1 | May 28, 2022 |
| Loeys-Dietz syndrome 2 | 1 | May 28, 2022 |
| Long QT syndrome | 1 | May 28, 2022 |
| Malignant hyperthermia of anesthesia | 2 | May 28, 2022 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | May 28, 2022 |
| Marfan syndrome | 1 | May 28, 2022 |
| Polyglandular autoimmune syndrome, type 1 | 33 | Mar 24, 2025 |
| Von Hippel-Lindau syndrome | 1 | May 28, 2022 |
| Wilson disease | 2 | May 28, 2022 |
