Back to Posters

Gene-specific criteria for PTEN variant curation.

Session:
#2558
Date:
Thursday, Oct 19, 2017 3:00pm – 4:00pm
Conference:
ASHG 2017
Authors:
Charis Eng, Helio Costa, Jessica Mester, Jill Barnholtz-Sloan, Joanne Ngeow, Kaitlin Sesock, Katherine Lachlan, Kathleen Hruska, Liying Zhang, Madhuri Hegde, Rachid Karam, PhD, Rajarshi Ghosh, Robert Huether, Sharon Plon, Tina Pesaran, MA, MS, CGC
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