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. 2020 Mar 17;22(6):1025–1035. doi: 10.1038/s41436-020-0772-y

Fig. 2. Pedigree chart for subjects 29–1, 29–2, and 29–3.

Fig. 2

The identified heterozygous genetic variant COL4A3 p.Gly934Arg (G934R) was initially classified as a variant of unknown significance (VUS) (American College of Medical Genetics and Genomics [ACMG] criteria: PM1, PM2, PP3) but following segregation analysis was reclassified as likely pathogenic (ACMG: PM1, PM2, PP1, PP3). CKD chronic kidney disease, GFR glomerular filtration rate.