Session # GEN206

Atypical risk variants in oncology and rare disease: Findings from a review of laboratory case studies and over 6000 ClinVar submissions

Presenting Author: B. Monica Bowen, PhD

Take home points: 

1. We review select variants in oncology and rare disease that highlight the nuances involved in assessing pathogenic variants that may warrant special language when reported.
2. We also highlight variable usage of the terms hypomorph, pathogenic low penetrance, and atypical risk in the ClinVar database and call for improved guidance and terminology for these variant types.

• Authors: B. Monica Bowen; Audrey O’Neill; Ashley PL Marsh; Claire Watson; Colin C. Young; Noriko N. Yokoyama; Emily Kudalkar; Wendy Alcaraz; Erica Smith; Marcy Richardson
• Conference: NSGC 2025
• Date: Saturday, Nov 08, 2025 5:00pm - 6:00pm