SNPedia (River Road Bio)
General information
SNPedia
River Road Bio
Rockville
Maryland
United States - 20854
http://www.SNPedia.com/
Organization ID: 500165
River Road Bio
Rockville
Maryland
United States - 20854
http://www.SNPedia.com/
Organization ID: 500165
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 114
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AOPEP | 2 | Apr 26, 2011 |
| APOE | 1 | Aug 12, 2014 |
| ASL | 11 | Apr 5, 2016 |
| BLM | 1 | Apr 27, 2011 |
| CFTR | 3 | Apr 26, 2011 |
| CFTR-AS1 | 1 | Apr 26, 2011 |
| CLN6 | 9 | Jun 29, 2011 |
| ELP1 | 1 | Apr 26, 2011 |
| F9 | 1 | Jan 10, 2014 |
| FANCC | 3 | Apr 26, 2011 |
| GBA1 | 1 | Jan 4, 2019 |
| GNPTAB | 3 | Apr 27, 2011 |
| GNPTG | 2 | Apr 27, 2011 |
| HNF1A | 1 | Jun 10, 2014 |
| LDLR | 13 | Apr 7, 2016 |
| LMNA | 1 | Aug 22, 2014 |
| LOC106627981 | 1 | Jan 4, 2019 |
| LOC111674475 | 1 | Apr 26, 2011 |
| LOC130058158 | 1 | Apr 27, 2011 |
| MCM8 | 1 | Dec 3, 2014 |
| MCOLN1 | 1 | Apr 26, 2011 |
| PALB2 | 24 | Aug 20, 2014 |
| POLA1 | 1 | Apr 7, 2016 |
| SETD1A | 5 | Mar 16, 2016 |
| TUBB8 | 7 | Feb 26, 2016 |
| VPS13B | 23 | Sep 6, 2011 |
| WRN | 1 | Apr 27, 2011 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Argininosuccinate lyase deficiency | 11 | Apr 5, 2016 |
| Hereditary factor IX deficiency disease | 1 | Jan 10, 2014 |
| Hypercholesterolemia, familial, 1 | 5 | Apr 7, 2016 |
| Oocyte maturation defect 2 | 7 | Feb 26, 2016 |
| Parkinson disease, late-onset | 1 | Jan 4, 2019 |
| Schizophrenia | 5 | Mar 16, 2016 |
| Type 2 diabetes mellitus | 1 | Jun 10, 2014 |
| X-linked reticulate pigmentary disorder | 1 | Apr 7, 2016 |
| not provided | 82 | Dec 3, 2014 |