Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.

doi:10.1016/j.gim.2026.102589

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

Community

Back to search

Article

Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2026

Ritter Deborah I, Badduke Chansonette, Doonanco Kurston, Kang Hio-Chung, Pesaran Tina, Ridd Sarah, Sheen Clare, Farncombe Kirsten M, Giles Rachel H, Luo Minjie, Pipko Neta, Tsoi Chung Ting, McGoldrick Kelly, Mighton Chloe, Abu Kashabeh Razan, Sanabria-Salas Maria C, Talab Yazan, Deka Kamalika B, Jacobs Michelle F, Tuzlali Elif, Gallinger Bailey, Griffith Malachi, Krysiak Kilannin, Machado Jerry, Maher Eamonn R, Tirosh Amit, Kim Raymond H

Abstract excerpt

PURPOSE: The Clinical Genome Resource (ClinGen) Von Hippel-Lindau (VHL) Variant Curation Expert Panel (VCEP) has created variant classification specifications tailored to the VHL gene, including phenotype-driven and evidence-based criteria, utilizing somatic and germline mutational hotspots, along with functional and in silico data. METHODS: Using the American College of Medical Genetics and Genomics guidance and...

Read the complete abstract on PubMed

Topics

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

Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Genome, Human

Share to Genomics

Share to Mutation

Share to Phenotype

Share to von Hippel-Lindau Disease

Share to Von Hippel-Lindau Tumor Suppressor Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 42070091
DOI: 10.1016/j.gim.2026.102589
PMCID: PMC13350953

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.PMID 42070091Read ↗

Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) DiseaseSemantic proximity Read ↗

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.Semantic 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 ↗

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

ClinGen <i>CDH1</i> specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelinesSemantic proximity Read ↗

Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation MethodsSemantic proximity Read ↗

Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.Semantic proximity Read ↗

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Semantic proximity Read ↗

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).Semantic proximity Read ↗

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.Semantic proximity Read ↗

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.Semantic proximity Read ↗

Evolution of the open-access CIViC knowledgebase is driven by the needs of the cancer variant interpretation communitySemantic proximity Read ↗

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