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Classifying variants in the CHEK2 gene: the importance of collaboration.

Date:
Saturday, Jan 28, 2017 9:00am – 6:00pm
Conference:
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Authors:
Carin Espenschied, Chia-Ling Gau, PhD, DABMG, Jana Soukupova, Jill Dolinsky, Laura Panos, Lenka Stolarova, Marcy Richardson, Michal Vocka, Petra Kleiblova, Petra Zemankova, Zdenek Kleibl
  • Moderate risk genes such as CHEK2, pose challenges for variant classification.
  • Data sharing and collaboration between laboratories is necessary to reduce classification discrepancies, improve variant interpretation, and provide clearer information for clinicians and patients.
Abstract Poster