Collaborator: Icahn School of Medicine at Mount Sinai

• Challenges and errors in genetic testing: The sixth case series

  August 1, 2026

• Expanding and automating the calibration of computational tools for clinical variant classification

  April 2, 2026

• An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

  Presenting Author: Marcy E. Richardson, PhD Take home points:  APC I1307K homozygotes trend towards increased odds of CRC (OR 2.479 [0.914-6.723], p 0.074) but no difference in age at CRC diagnosis relative to other control cohorts. Small effect sizes continue to limit the ability to detect significantly distinct odds of CRC between APC I1307K heterozygotes…

  April 2, 2026

• Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

• ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

• An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

  Presenting Author: Dr. Aimee Lucas, MD from Icahn School of Medicine at Mount Sinai Take home point:  APC p.I1307K homozygotes are not at appreciably increased risk for colon cancer or polyps relative to APC p.I1307K heterozygotes in a clinical genetic testing laboratory cohort.

  April 2, 2026

• Extracting and calibrating evidence of variant pathogenicity from population biobank data

• Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

• Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

• Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)