ClinGen Variant Curation Interface

ClinGen Variant Curation Interface standardizes the application of ACMG/AMP evidence criteria for genetic variant interpretation to support consistent clinical variant classification.

Key Features:

• ACMG/AMP criteria application: Aligns variant classification with the American College of Medical Genetics and Genomics/American College of Pathology (ACMG/AMP) evidence criteria.
• Standardized curation process: Implements a standardized human variant curation workflow recognized by the FDA.
• Evidence aggregation and annotation: Identifies, annotates, and enables sharing of relevant evidence for assessing variant pathogenicity.
• Provenance tracking: Documents provenance and supporting evidence for each variant classification.
• Expert-panel review support: Facilitates ClinGen Expert Panels' collaborative review and peer review of variant assertions.
• Next-generation sequencing interpretation: Supports interpretation of variants identified through next-generation sequencing for clinical decision-making.

Scientific Applications:

• Clinical variant classification: Produces standardized pathogenicity assertions for genetic variants to inform clinical interpretation.
• Genomic medicine decision support: Informs healthcare management by enabling evidence-based variant interpretation from patient genomes.
• Expert curation and consensus generation: Enables ClinGen Expert Panels to reach consensus and perform peer review of variant classifications.
• Evidence-based improvement of variant databases: Contributes standardized classifications and provenance to improve the quality of human variant curation.

Methodology:

Applies ACMG/AMP evidence criteria to variants, aggregates and annotates supporting evidence, records provenance for classifications, and supports sharing and peer review among ClinGen Expert Panels.