Who Can Participate?

Eligible participants include individuals who have confirmed documentation of a germline RUNX1 variant classified as one of the following:

  • Variant of Uncertain Significance (VUS)

  • Likely Pathogenic

  • Pathogenic

Family members without a RUNX1 diagnosis may also be eligible to participate as comparison (control) participants.

If you are unsure about your eligibility or would like help confirming your RUNX1 variant classification, please contact the study team via email: Akmaljon.Salimov@Pennmedicine.upenn.edu.

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RUNX1 Patient Tissue Bank Information

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Getting Started