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Article

Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2020

van Rooij Jeroen, Arp Pascal, Broer Linda, Verlouw Joost, van Rooij Frank, Kraaij Robert, Uitterlinden André, Verkerk Annemieke J M H

Abstract excerpt

PURPOSE: We studied the penetrance of pathogenically classified variants in an elderly Dutch population from the Rotterdam Study, for which deep phenotyping is available. We screened the 59 actionable genes for which reporting of known pathogenic variants was recommended by the American College of Medical Genetics and Genomics (ACMG), and demonstrate that determining what constitutes a known pathogenic variant...

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Identifiers

PMID: 32665702
DOI: 10.1038/s41436-020-0900-8
PMCID: PMC7605437

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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