Figure 4.
Summary of the variant interpretation criteria applied to the 70 ITAG2B/ITGB3 validation variants. The frequency with which PD-EP–specified ACMG/AMP criteria were applied during the variant pilot. Several criteria were applied at varying levels of strength, as indicated by shading (legend on the right). A majority of rules were applied at least once; however, no relevant variants were identified for application of PS1, PM6, BS2, BS4, or BP3 criteria.

Summary of the variant interpretation criteria applied to the 70 ITAG2B/ITGB3 validation variants. The frequency with which PD-EP–specified ACMG/AMP criteria were applied during the variant pilot. Several criteria were applied at varying levels of strength, as indicated by shading (legend on the right). A majority of rules were applied at least once; however, no relevant variants were identified for application of PS1, PM6, BS2, BS4, or BP3 criteria.

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