Collaborator: Invitae Corporation

• A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

• Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

• Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

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

• Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

• Current work of the APC subcommittee of the InSiGHT – ClinGen Hereditary CRC / Polyposis Variant Curation Expert Panel: Interpretation of selected APC variants based on the APC-specific ACMG/AMP variant classification criteria

  April 2, 2026

• Yale criteria for genetic testing in cases of suspected Hereditary Diffuse Gastric Cancer (HDGC) are more sensitive than IGCLC and ERN GENTURIS criteria in a large American cohort

  April 2, 2026

• Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

• Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

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