- The rescue results were concluded from Fig. 7B–C. Both eye and head size were significantly restored compared to the ogdhl F0 mutant embryos was classified as rescued (blue text). Only eye or head size was significantly restored was classified as partially rescued (light blue text). Neither eye nor head size was significantly restored was considered as failed rescue (red text)
- AD Autosomal dominant, AR Autosomal recessive, BP Benign supporting, BS Benign strong, Het Heterozygous, Hom Homozygous, M Moderate, P Supporting, PM Pathogenic moderate, PS Pathogenic strong, PVS Pathogenic very strong, S Strong, VS Very strong. Pathogenic ≥ 10 points, likely pathogenic between 6 and 9 points, VUS-favor pathogenic = 5 points, VUS = 1-4 points, VUS-favor benign = 0 points, likely benign = -6 to -1 points, benign ≤ -7 points
- 1This variant was characterized as causing a leaky in-frame skipping of exon 11 that was also detected in controls to a lesser extent. Recognizing that the variant effect at hand involves aberrant splicing, we omitted the incorporation of rescue data in classification following functional testing, as our assay cannot evaluate splice effects
