About the Study:
This collaboration is between the RUNX1 Research Program, the ClinGen Multiple Myeloma - Variant Curation Expert Panel (MM-VCEP), and ConnectMyVariant to demonstrate the potential using patient-driven testing to aid in resolving RUNX1 variants of unknown significance (VUS). This collaboration may lead to future collaborations between ConnectMyVariant and the RUNX1 Research Program to help families with pathogenic variants identify at-risk relatives so that those relatives can receive optimal prevention and treatment.
Other Advocacy/Professional groups involved in participant recruitment: The RUNX1 Research Program
Goals: The desired outcome of this pilot proposal is resolution of RUNX1 VUS to more definitive ACMG classification (e.g. likely-benign, benign, likely pathogenic, or pathogenic).
Participants: Individuals with RUNX1 VUS
Activities: Building family trees, identifying at risk relatives. Free laboratory testing for family members will be available through the MM-VCEP’s partner program on RUNX1 lifetime outcomes at the NIH.
Q & A:
- Sign up with ConnectMyVariant to learn more about this research opportunity and for the chance to be connected with others with your variant
- How to find your variant: To locate how to find your variant on your report- see these instructions.
- We are happy to review your prior genetic result(s) to determine if you qualify for this study. Please feel free to contact Kathryn, our Research Project Manager at research@connectmyvariant.org for more information.
- Please email Kathryn, our Research Project Manager at research@connectmyvariant.org