Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).

Points to consider for VUS reporting in germline genetic testing (ACMG 2026)

This ACMG document addresses reporting of variants of uncertain significance (VUS) in germline genetic testing. As high-throughput sequencing generates increasing numbers of VUS, the ACMG proposes recommendations to harmonize reporting practices, addressing major clinical, ethical, and psychological implications.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

VUS reporting is one of the most sensitive issues in clinical genetics: over-reporting generates unjustified anxiety, under-reporting risks missing future P/LP reclassifications. This ACMG document provides a coherent framework for laboratory procedures and clinical consultations.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10