Evidence map›Paper›PMID 42070091›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2026

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

Deborah I Ritter, Chansonette Badduke, Kurston Doonanco, Hio-Chung Kang, Tina Pesaran, Sarah Ridd, Clare Sheen, Kirsten M Farncombe, Rachel H Giles, Minjie Luo and 17 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Case Report: NovelFrontiers in medicine · 2026
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Deborah I RitterDepartment of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX. Electronic address: dritter@bcm.edu.
Chansonette BaddukePreventionGenetics part of Exact Sciences, Marshfield, WI.
Kurston DoonancoGeneDx, Gaithersburg, MD.
Hio-Chung KangLabcorp Genetics (formerly Invitae Corporation), Burlington, NC.
Tina PesaranAmbry Genetics, Aliso Viejo, CA.
Sarah RiddUniversity Health Network, Toronto, ON, Canada.
Clare SheenUniversity Health Network, Toronto, ON, Canada.
Kirsten M FarncombeUniversity Health Network, Toronto, ON, Canada.
Rachel H GilesVHL Europa, The Netherlands.
Minjie LuoChildren's Hospital of Philadelphia, Philadelphia, PA.
Neta PipkoThe Hospital For Sick Children, Toronto, ON, Canada.
Chung Ting TsoiThe Hospital For Sick Children, Toronto, ON, Canada.
Kelly McGoldrickAmbry Genetics, Aliso Viejo, CA.
Chloe MightonBroad Institute of MIT and Harvard, Cambridge MA, and Massachusetts General Hospital, Boston, MA.
Razan Abu KashabehDepartment of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman, Jordan.
Maria C Sanabria-SalasUniversity Health Network, Toronto, ON, Canada.
Yazan TalabDepartment of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman, Jordan.
Kamalika B DekaUniversity Health Network, Toronto, ON, Canada.
Michelle F JacobsUniversity of Michigan, Ann Arbor, MI.
Elif TuzlaliOntario Institute for Cancer Research, Toronto, ON, Canada.
Bailey GallingerThe Hospital For Sick Children, Toronto, ON, Canada.
Malachi GriffithWashington University School of Medicine, Saint Louis, MO.
Kilannin KrysiakWashington University School of Medicine, Saint Louis, MO.
Jerry MachadoExact Sciences Laboratories, Madison, WI.
Eamonn R MaherAston Medical School, Aston University, Birmingham, United Kingdom and Department of Genomic Medicine, University of Cambridge, Cambridge, United Kingdom.
Amit TiroshNeuroendocrine Oncology Unit, Sheba Medical Center and Tel Aviv University Faculty of Medicine, Ramat Gan, Israel.
Raymond H KimUniversity Health Network, Toronto, ON, Canada; The Hospital For Sick Children, Toronto, ON, Canada; Ontario Institute for Cancer Research, Toronto, ON, Canada.

Funding

Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)U24HG009649 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI TERI Ellen KLEIN, Aleksandar Milosavljevic · 2021 to 2026
$31.5M
Text Mining and Large Language Models for AI-Driven Evidence-Based Functional Annotation of Clinical VariantsU24CA275783 · NCI · WASHINGTON UNIVERSITY · PI Malachi Griffith, Obi L. Griffith · 2023 to 2026
$2.6M
Accelerating the expert-crowdsourcing of cancer variant interpretation in CIViCU24CA305456 · NCI · WASHINGTON UNIVERSITY · PI Malachi Griffith, Obi L. Griffith · 2025 to 2026
$2.0M
NCI NIH HHS U24 CA275783NCI NIH HHS U24 CA305456NHGRI NIH HHS U24 HG009649
6 · The paper itself

Abstract

purposeThe 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.

methodsUsing the American College of Medical Genetics and Genomics guidance and the ClinGen Sequence Variant Interpretation recommendations, the VCEP made substantial modifications to 8 evidence codes (PVS1, PS3, PS4, PM1, BS2, BS3, BS4, and BP5), whereas 14 had minor changes, and 6 were not used (PM3, PP2, BP1, PP4, PP5/BP6). The VHL VCEP applied 2 literature sets of over >428 articles in Clinical Interpretations of Variants in Cancer and >8700 structured annotations using Hypothesis.

resultsFrom 31 pilot variants, 15 remained pathogenic/likely pathogenic, and 9 resolved to benign through the stand-alone benign evidence code, whereas 7 variants with initial uncertain classifications lacking additional evidence, remained uncertain.

conclusionThe versioned VHL VCEP Specifications are publicly available in the ClinGen Criteria Specifications Registry and will enhance the transparency and consistency of variant classifications for this highly sequenced hereditary cancer gene.

Indexed as

von Hippel-Lindau DiseaseVon Hippel-Lindau Tumor Suppressor ProteinBiocurationDatabases, GeneticGenetic TestingGenome, HumanGenomicsHumansMutationPhenotypeVHL protein, humanVon Hippel-Lindau Tumor Suppressor ProteinCancerClinGenCurationVariant classificationVHL

Identifiers

PMID42070091
PMCPMC13350953

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.