P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

Lignende værker

• Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
  af: Emma H. Wilcox, et al.
  Udgivet: (2025-01-01)
• P155: The ClinGen framework for naming monogenic diseases*
  af: Courtney Thaxton, et al.
  Udgivet: (2024-01-01)
• 38: Adoption of the ACMG and ClinGen copy number variant (CNV) technical standards in clinical genetic laboratories in the United States
  af: Alexis Williams, et al.
  Udgivet: (2025-01-01)
• P630: ClinGen curation of ClinVar: Improving a critical community resource*
  af: Heidi Rehm, et al.
  Udgivet: (2025-01-01)
• O56: The Clinical Genome Resource (ClinGen): Engaging the patient community in ClinGen’s work through Facebook Hereditary Cancer Groups
  af: Deborah Ritter, et al.
  Udgivet: (2023-01-01)