Collaborator: Perelman School of Medicine at the University of Pennsylvania

• Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification

  August 1, 2026

• Clinical utility of Multiplexed Assays of Variant Effects (MAVEs) in a pediatric cohort

  April 2, 2026

• Partially functional (hypomorphic) missense variants in BRCA2 are reduced penetrance pathogenic variants

  April 2, 2026

• Characterization of the genetic and phenotypic spectrum of a novel neurodevelopmental syndrome, TCF7L2-related neurodevelopmental disorder (TRND)

  April 2, 2026

• Beyond familial adenomatous polyposis: using genotype-phenotype correlations to discern germline versus somatic status for APC whole gene deletions among 860,000 tests

  Presenting Author: Katherine L. Belshe, MS, CGC from the University of Kansas Take home points:  APC whole-gene deletions are incidentally identified in pan-cancer-panel-tested individuals but are most often reported as mosaic. Mosaic APC whole-gene deletions were older than heterozygous individuals and had a cancer history that was distinct from FAP. Breakpoint analysis revealed that the…

  April 2, 2026

• Clinical validity of autosomal dominant ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy

• When clinical meets molecular: Why, when and how do CTNNA1 germline variants cause hereditary diffuse gastric cancer development

  April 2, 2026

• Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

  April 2, 2026

• Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group

• Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant