Snyder Lab, Genetics Department (Stanford University)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 | May 19, 2017 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Oct 29, 2018 |
| CHEK2-related cancer predisposition | 1 | Oct 29, 2018 |
| Carcinoma of colon | 1 | Oct 29, 2018 |
| Cystinuria | 1 | Oct 29, 2018 |
| Familial colorectal cancer | 1 | Oct 29, 2018 |
| Familial hyperinsulinism | 1 | Oct 29, 2018 |
| Intellectual disability | 1 | Sep 6, 2018 |
| Maturity-onset diabetes of the young type 3 | 1 | Oct 29, 2018 |
| Neurodevelopmental delay | 1 | Sep 6, 2018 |
| Periodic paralysis | 1 | Sep 6, 2018 |
| Primary dilated cardiomyopathy | 1 | Oct 29, 2018 |
| Progressive pseudorheumatoid dysplasia | 1 | Oct 24, 2017 |
| SDHB-related disorder | 2 | Oct 29, 2018 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Oct 29, 2018 |