Clarification of Variant Reporting for Homologous Genes Resolved Through Systematic Literature Review – ACMG SF genes CALM1 CALM2 and CALM3

Presented at ACMG 2024 by Genomenon’s KT Curry, this study reports on the findings of semi-automated curation of the published dataset for the secondary finding (SF) genes CALM1, CALM2, and CALM3 (CALM) associated with severe calmodulinopathies.

The World’s Most Comprehensive Source of Genomic Evidence

Mastermind accelerates variant interpretation with immediate insight into the full text of millions of scientific articles. Prioritize your search results by clinical relevance and find what you are looking for 5-10 times faster

Explore Mastermind CORE
Every Missing Genetic Variant is a Patient Your Label Doesn't Reach
  • Rare disease and precision oncology programs rely on evidence fragmented across millions of published articles and supplemental datasets.
  • Genomenon builds the custom real-world evidence your program needs.
  • AI-powered search. Expert scientific curation.
  • The result: a broader label, more eligible patients, and a regulatory filing your team can defend.
Request a custom evidence build for your program
speak with an expert