Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

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  • Ahmad N. Abou Tayoun
    The Children's Hospital of Philadelphia Philadelphia Pennsylvania
  • Tina Pesaran
    Ambry Genetics Aliso Viejo California
  • Marina T. DiStefano
    Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts
  • Andrea Oza
    Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts
  • Heidi L. Rehm
    Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts
  • Leslie G. Biesecker
    Medical Genomics and Metabolic Genetics BranchNational Human Genome Research InstituteNational Institutes of Health Bethesda Maryland
  • Steven M. Harrison
    Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts

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