Center for Precision Medicine (Vanderbilt University Medical Center)
General information
Center for Precision Medicine
Vanderbilt University Medical Center
2525 West End Ave, Suite 1500
Nashville
Tennessee
United States - 37203
https://www.vumc.org/cpm/
Organization ID: 506545
Vanderbilt University Medical Center
2525 West End Ave, Suite 1500
Nashville
Tennessee
United States - 37203
https://www.vumc.org/cpm/
Organization ID: 506545
Personnel
- Janey Wang, Coordinator
Phone: 615-936-0204
Email: janey.wang@Vanderbilt.Edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 18
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AGXT | 1 | Jun 14, 2018 |
| CFTR | 2 | Jun 14, 2018 |
| CHRNA4 | 1 | Jun 14, 2018 |
| DGKE | 1 | Jun 14, 2018 |
| F10 | 1 | Jun 14, 2018 |
| FAN1 | 1 | Jun 14, 2018 |
| HFE | 1 | Jun 14, 2018 |
| KIF1A | 1 | Jun 14, 2018 |
| KIF1B | 1 | Jun 14, 2018 |
| LOC111674475 | 2 | Jun 14, 2018 |
| PANK2 | 1 | Jun 14, 2018 |
| PLCG2 | 1 | Jun 14, 2018 |
| SH2B3 | 2 | Jun 14, 2018 |
| SPTBN2 | 1 | Jun 14, 2018 |
| SUOX | 1 | Jun 14, 2018 |
| TG | 1 | Jun 14, 2018 |
| VWF | 1 | Jun 14, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Jun 14, 2018 |
| Autosomal recessive spinocerebellar ataxia 14 | 1 | Jun 14, 2018 |
| Charcot-Marie-Tooth disease type 2A1 | 1 | Jun 14, 2018 |
| Cystic fibrosis | 2 | Jun 14, 2018 |
| Familial cold autoinflammatory syndrome 3 | 1 | Jun 14, 2018 |
| Hemochromatosis type 1 | 1 | Jun 14, 2018 |
| Hereditary factor X deficiency disease | 1 | Jun 14, 2018 |
| Hereditary spastic paraplegia 30 | 1 | Jun 14, 2018 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 | Jun 14, 2018 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 | Jun 14, 2018 |
| Iodotyrosyl coupling defect | 1 | Jun 14, 2018 |
| Karyomegalic interstitial nephritis | 1 | Jun 14, 2018 |
| Primary familial polycythemia due to EPO receptor mutation | 1 | Jun 14, 2018 |
| Primary hyperoxaluria, type I | 1 | Jun 14, 2018 |
| Sulfite oxidase deficiency | 1 | Jun 14, 2018 |
| Thrombocythemia 1 | 1 | Jun 14, 2018 |
| von Willebrand disease type 3 | 1 | Jun 14, 2018 |