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Gene-specific criteria for PTEN variant curation.

Session:
#2558
Date:
Thursday, Oct 19, 2017 3:00pm – 4:00pm
Conference:
ASHG 2017
Authors:
Tina Pesaran, MA, MS, CGC, Rachid Karam, PhD, Jessica Mester, Rajarshi Ghosh, Robert Huether, Kathleen Hruska, Helio Costa, Katherine Lachlan, Joanne Ngeow, Jill Barnholtz-Sloan, Liying Zhang, Kaitlin Sesock, Sharon Plon, Madhuri Hegde, Charis Eng
Collaborators:
  • Ambry is part of ClinGen PTEN Expert panel which was formed to optimize the 2015 ACMG-AMP Variant Interpretation Guidelines for clinical interpretation of variants identified in PTEN
  • Optimized guidelines will facilitate accurate and consistent classification of variants in PTEN across clinical and research laboratories and are therefore very important for patient care.
Abstract