Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2018

Gelb Bruce D, Cavé Hélène, Dillon Mitchell W, Gripp Karen W, Lee Jennifer A, Mason-Suares Heather, Rauen Katherine A, Williams Bradley, Zenker Martin, Vincent Lisa M

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Gene Frequency
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Genomics

Share to High-Throughput Nucleotide Sequencing

Share to Information Dissemination

Share to Software

Share to United States

Source

Open in PubMed Open full text

Identifiers

PMID: 29493581
DOI: 10.1038/gim.2018.3
PMCID: PMC6119537

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.PMID 29493581Read ↗

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Semantic proximity Read ↗

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretationSemantic proximity Read ↗

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert PanelSemantic proximity Read ↗

Evaluation of <i>in silico</i> algorithms for use with ACMG/AMP clinical variant interpretation guidelinesSemantic proximity Read ↗

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.Semantic proximity Read ↗

Evaluating ClinGen variant curation expert panels' application of PVS1 code.Semantic proximity Read ↗

Specification of frequency criteria for secondary findings genes to improve variant classification concordanceSemantic proximity Read ↗

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.Semantic proximity Read ↗

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines.Semantic proximity Read ↗

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation FrameworkSemantic proximity Read ↗

Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation across Multiple Genes.Semantic proximity Read ↗

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanismsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.