Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Q: What does this research mean for the field?

The 2026 ACGS guidelines establish revised best practices for clinical variant classification in rare diseases. Novelty: ClaimNovelty.SYNTHESIS. Consensus alignment: ConsensusAlignment.NEUTRAL.

Miranda Durkie; Emma-Jane Cassidy; Martina Owens; Ian Berry; John Taylor; Shaun Haigh; Clare Turnbull; Richard H. Scott; Robert W. Taylor; Zandra C. Deans; Sian Ellard; Emma L. Baple; Dominic McMullan

doi:10.5281/zenodo.22671707

September 9, 2026Open Access

Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

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Key Points

Establish revised, consensus-driven best practice guidelines from the Association for Clinical Genomic Science for interpreting and classifying genetic variants in rare disease.
Updated the 2020 ACGS recommendations through expert committee consensus, incorporating contemporary genomic evidence frameworks for rare disease diagnostic workflows in 2026.
Provides refined criteria and calibrated evidence weightings for determining the pathogenicity or benignity of germline variants.
Harmonizes clinical variant curation rules across diagnostic centers to reduce inter-laboratory classification discrepancies.

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Implication

Clinical practice guideline reveals updated variant classification standards in rare disease, highlighting improved diagnostic consistency across laboratories.

Abstract

Revised ACGS variant classification guidelines 2026.

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Cite This Study

Durkie et al. (2026) studied this question.

synapsesocial.com/papers/6aa27c3058559d80afc75e61 https://doi.org/10.5281/zenodo.22671707

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Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Key Points

No abstract yet

Implication

Abstract

Discussion

Cite This Study

Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Key Points

No abstract yet

Implication

Abstract

Discussion

Cite This Study

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