Appendix 1 of Pantrangi, Mol Vis 2024; 30:49-57.


Appendix 1. Benign and Likely Benign RPGR Variants Detected at PreventionGenetics.

To access the data, click or select the words “Appendix 1.” Nucleotide and amino acid numbering for variants within exons 1 through 15 were based on transcript NM_001034853.2. PreventionGenetics variant interpretations were assigned by PhD geneticists using American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines [25]. ClinVar Interpretations were taken from the ClinVar website as of November 2023. Listed in the ClinVar column are all interpretations for each variant from all laboratories other than PreventionGenetics. An empty cell in the ClinVar column indicates that there were no interpretations from other laboratories for that variant. Interpretation abbreviations are U (Uncertain), LB (Likely Benign) and B (Benign). The numbers in parentheses after the abbreviations are the number of separate ClinVar entries for each interpretation.