Session # 2558T

Gene-specific criteria for PTEN variant curation.

  • 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.

  • Authors: Jessica Mester; Rajarshi Ghosh; Tina Pesaran; Rachid Karam; Robert Huether; Kathleen Hruska; Helio Costa; Katherine Lachlan; Joanne Ngeow; Jill Barnholtz-Sloan; Liying Zhang; Kaitlin Sesock; Sharon Plon; Madhuri Hegde; Charis Eng
  • Collaborators: Baylor College of Medicine; Stanford
  • Conference: American Society of Human Genetics (ASHG)
  • Date: Thursday, Oct 19, 2017 3:00pm - 4:00pm

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