ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel, ClinGen InSiGHT HCCP VCEP
FDA Recognized Database
General information
Personnel
- Emily Nadeau, Coordinator
Phone: (802) 656-5487
Email: emily.nadeau@med.uvm.edu - John Paul Plazzer, Coordinator
Phone: +61 3 8559 7232
Email: johnpaul@variome.org - Isabel Spier, Coordinator
Phone: 49 - (0)228 287 51020
Email: ispier@uni-bonn.de - Xiaoyu Yin, Contact
Phone: +61 3 8559 7232
Email: sherry.yinx@gmail.com
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 108
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| APC | 106 | Jun 3, 2025 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Classic or attenuated familial adenomatous polyposis | 3 | Jun 3, 2025 |
| Familial adenomatous polyposis 1 | 104 | Jun 3, 2025 |
| Familial multiple polyposis syndrome | 1 | Jun 3, 2025 |