Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

  • Authors: Marcy E Richardson; Megan Holdren; Terra Brannan; Miguel de la Hoya; Amanda B Spurdle; Sean V Tavtigian; Colin C Young; Lauren Zec; Susan Hiraki; Michael J Anderson; Logan C Walker; Shannon McNulty; Clare Turnbull; Marc Tischkowitz; Katherine Schon; Thomas Slavin; William D Foulkes; Melissa Cline; Alvaro N Monteiro; Tina Pesaran; Fergus J Couch
  • Collaborators: Beckman Research Institute of City of Hope; GeneDx; H. Lee Moffitt Cancer Center and Research Institute; Institute of Cancer Research, London; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos; Invitae Corporation; Mayo Clinic; McGill University; Natera; QIMR Berghofer Medical Research Institute; UC Santa Cruz Genomics Institute; University of North Carolina at Chapel Hill; University of Otago; University of Utah
  • Journal: The American Journal of Human Genetics
  • Date: 2024 - May

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