ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

ABSTRACT:

Purpose

Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain working groups (CDWGs) are systematically reviewing disease-associated genes for sufficient evidence to support disease causality and creating disease-specific specifications of American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines for consistent and accurate variant classification.

Methods

The ClinGen RASopathy CDWG established an expert panel to curate gene information and generate gene- and disease-specific specifications to ACMG-AMP variant classification framework. These specifications were tested by classifying 37 exemplar pathogenic variants plus an additional

SUBMITTER: Gelb BD 

PROVIDER: S-EPMC6119537 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature