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

Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.

European journal of medical genetics - 1 Nov 2023

Martorana Davide, Barili Valeria, Uliana Vera, Ambrosini Enrico, Riva Matteo, De Sensi Erika, Luppi Elena, Messina Corinne, Caleffi Edoardo, Pisani Francesco, Percesepe Antonio

Abstract excerpt

The finding of variants of uncertain significance (VUS) in the activity of a diagnostic genetic laboratory is a common issue, which is however provisional and needs to be periodically re-evaluated, due to the continuous advancements in our knowledge of the genetic diseases. Neurofibromatosis type 1, caused by the occurrence of heterozygous pathogenic NF1 variants, is a good model for studying the evolution of...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Predisposition to Disease
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Neurofibromatosis 1

Source

Identifiers

PMID: 37751797
DOI: 10.1016/j.ejmg.2023.104847

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.PMID 37751797Read ↗

Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines.Semantic proximity Read ↗

Variant classification changes over time in the clinical molecular diagnostic laboratory setting.Semantic proximity Read ↗

Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience.Semantic proximity Read ↗

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.Semantic proximity Read ↗

Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.Semantic proximity Read ↗

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicitySemantic proximity Read ↗

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associationsSemantic proximity Read ↗

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudySemantic proximity Read ↗

Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria - A Retrospective Cohort Study.Semantic proximity Read ↗

Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.Semantic proximity Read ↗

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic.Semantic proximity Read ↗

Molecular spectrum and genotype-phenotype correlations in Romanian patients with neurofibromatosis type 1Semantic proximity Read ↗

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