Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

In 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely pathogenic cl...

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Detalles Bibliográficos
Autores principales: Harrison, Steven M., Rehm, Heidi L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Comment
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873511/
https://www.ncbi.nlm.nih.gov/pubmed/31752965
http://dx.doi.org/10.1186/s13073-019-0688-9
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author Harrison, Steven M.
Rehm, Heidi L.
author_facet Harrison, Steven M.
Rehm, Heidi L.
author_sort Harrison, Steven M.
collection PubMed
description In 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely pathogenic classifications were reclassified as pathogenic, depending on whether LP to VUS reclassifications are included and on how these classifications are categorized.
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spelling pubmed-68735112019-12-12 Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar Harrison, Steven M. Rehm, Heidi L. Genome Med Comment In 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely pathogenic classifications were reclassified as pathogenic, depending on whether LP to VUS reclassifications are included and on how these classifications are categorized. BioMed Central 2019-11-21 /pmc/articles/PMC6873511/ /pubmed/31752965 http://dx.doi.org/10.1186/s13073-019-0688-9 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Comment
Harrison, Steven M.
Rehm, Heidi L.
Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
title Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
title_full Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
title_fullStr Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
title_full_unstemmed Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
title_short Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
title_sort is ‘likely pathogenic’ really 90% likely? reclassification data in clinvar
topic Comment
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873511/
https://www.ncbi.nlm.nih.gov/pubmed/31752965
http://dx.doi.org/10.1186/s13073-019-0688-9
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