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. 2020 Jul 15;22(11):1812–1820. doi: 10.1038/s41436-020-0900-8

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© The Author(s) 2020

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Fig. 2 — (a) Classification of all variants detected in one of the 59 American College of Medical Genetics and Genomics (ACMG) genes in 2628 participants of the Rotterdam Study population according to ClinVar at different time points: March 2014 (date 140303), March 2015 (date 150330), March 2016 (date 160302), January 2017 (date 170130), and June 2018 (date 180603). Each variant is connected by a line between all five versions. Marked in yellow are the 17 known pathogenic variants classified as category 5 by the most recent versions of ClinVar (version 180603) and the Human Gene Mutation Database (HGMD) (version 17.3). (b) The number of variants in each class of each ClinVar database version. (c) The class at each database version for the 17 variants that were classified as 5 in ClinVar in 2018 and by HGMD 17.3 (marked yellow in a). For visualization purposes, the variants observed in autosomal recessive genes ATP7B and MUTYH are not shown.