Evidence map›Paper›PMID 39767183›Full record

ArticleDiagnostics (Basel, Switzerland)2024

Reinterpretation of Conflicting ClinVar

Min-Kyung So, Gaeul Jung, Hyun-Jeong Koh, Sholhui Park, Tae-Dong Jeong, Jungwon Huh

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2024. 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. Identification and Computational Analysis ofMedical sciences (Basel, Switzerland) · 2026
    Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Min-Kyung SoDepartment of Laboratory Medicine, Ewha Womans University College of Medicine, Seoul 03760, Republic of Korea.ORCID 0000-0001-9728-3008
Gaeul JungDepartment of Genetic Counseling, Ewha Womans University College of Medicine Graduate School, Seoul 03760, Republic of Korea.
Hyun-Jeong KohDepartment of Genetic Counseling, Ewha Womans University College of Medicine Graduate School, Seoul 03760, Republic of Korea.
Sholhui ParkDepartment of Laboratory Medicine, Ewha Womans University College of Medicine, Seoul 03760, Republic of Korea.ORCID 0000-0002-6467-427X
Tae-Dong JeongDepartment of Laboratory Medicine, Ewha Womans University College of Medicine, Seoul 03760, Republic of Korea.
Jungwon HuhDepartment of Laboratory Medicine, Ewha Womans University College of Medicine, Seoul 03760, Republic of Korea.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe accurate interpretation of the

methodsVarSome and the BRCA1/BRCA2: CanVIG-UK gene-specific guidance (CanVIG-UK) classifications were compared, and the five original classifications were consolidated into three categories (PV/LPV, VUS, and BV/LBV). Consensus analysis was performed between re-extracted ClinVar data and VarSome and CanVIG-UK results.

resultsThe three-category classification of the variants resulted in an overall concordance rate of 58.9% for

conclusionsVarSome and CanVIG-UK have different features that help improve the accuracy of pathogenicity classification, highlighting the potential complementary use of both tools to support clinical decision making.

Indexed as

BRCA1/BRCA2: CanVIG-UK gene-specific guidanceBRCA1 missense variantsClinVarconflicting interpretationVarSome

Identifiers

PMID39767183
PMCPMC11675547

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.