Evidence map›Paper›PMID 40909814›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease.

D I Ritter, C Badduke, K Doonanco, H C Kang, T Pesaran, S Ridd, C Sheen, K M Farncombe, R H Giles, M Luo and 17 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

D I RitterBaylor College of Medicine and Texas Children's Hospital, Department of Pediatrics.
C BaddukePreventionGenetics part of Exact Sciences, Marshfield, WI.
K DoonancoGeneDx, Gaithersburg, MD.
H C KangLabcorp Genetics (formerly Invitae Corporation), Burlington, NC.
T PesaranAmbry Genetics, Aliso Viejo, CA.
S RiddUniversity Health Network, Toronto, Ontario, Canada.
C SheenUniversity Health Network, Toronto, Ontario, Canada.
K M FarncombeUniversity Health Network, Toronto, Ontario, Canada.
R H GilesVHL Europa, the Netherlands.
M LuoChildren's Hospital of Philadelphia, Philadelphia, PA.
N PipkoThe Hospital For Sick Children, Toronto, Canada.
C T TsoiThe Hospital For Sick Children, Toronto, Canada.
K McGoldrickAmbry Genetics, Aliso Viejo, CA.
C MightonBroad Institute of MIT and Harvard, Cambridge, USA and Massachusetts General Hospital.
R H Abu KashabehDepartment of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman, Jordan.
M C Sanabria-SalasUniversity Health Network, Toronto, Ontario, Canada.
Y TalabDepartment of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman, Jordan.
K B DekaUniversity Health Network, Toronto, Ontario, Canada.
M F JacobsUniversity of Michigan, Ann Arbor, MI, USA.
E TuzlaliOntario Institute for Cancer Network, Toronto, Ontario, Canada.
B GallingerThe Hospital For Sick Children, Toronto, Canada.
M GriffithWashington University School of Medicine, Saint Louis, MO, USA.
K KrysiakWashington University School of Medicine, Saint Louis, MO, USA.
J MachadoOntario Institute for Cancer Network, Toronto, Ontario, Canada.
E R MaherWashington University School of Medicine, Saint Louis, MO, USA.
A TiroshExact Sciences Laboratories, Madison, Wisconsin, USA.
R H KimUniversity Health Network, Toronto, Ontario, 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
NHGRI NIH HHS U24 HG009649
6 · The paper itself

Abstract

Introduction: The Clinical Genome Resource (ClinGen) Von Hippel-Lindau (VHL) Variant Curation Expert Panel (VCEP) has created variant classification specifications tailored to the Materials and Methods: Using the American College of Medical Genetics and Genomics (ACMG) guidance and the ClinGen Sequence Variant Interpretation (SVI) recommendations, the VCEP made substantial modifications to eight evidence codes (PVS1, PS3, PS4, PM1, BS2, BS3, BS4, BP5), while 14 had minor or no changes and 6 were not used (PM3, PP2, BP1, PP4, PP5/BP6). The VHL VCEP applied two literature sets of over >428 papers in Clinical Interpretations of Variants in Cancer (CIViC) and >8700 structured annotations using Hypothesis. Results: From 31 pilot variants, 15 remained pathogenic/likely pathogenic, 9 resolved to benign through the stand-alone benign evidence code and 7 variants with initial uncertain classifications, with many lacking additional literature, remained uncertain. Conclusion: The 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.

Identifiers

PMID40909814
PMCPMC12407605

What OpenQuestion holds

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Registered trials

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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.