The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.

ABSTRACT:

Purpose

Genomic test results, regardless of laboratory variant classification, require clinical practitioners to judge the applicability of a variant for medical decisions. Teaching and standardizing clinical interpretation of genomic variation calls for a methodology or tool.

Methods

To generate such a tool, we distilled the Clinical Genome Resource framework of causality and the American College of Medical Genetics/Association of Molecular Pathology and Quest Diagnostic Laboratory scoring of variant deleteriousness into the Clinical Variant Analysis Tool (CVAT). Applying this to 289 clinical exome reports, we compared the performance of junior practitioners with that of experienced medical geneticists and assessed the utility of reported variants.

Results

CVAT enabl

SUBMITTER: Chin HL 

PROVIDER: S-EPMC9363005 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature