Appendix 2 of Pantrangi, Mol Vis 2024; 30:49-57.


Appendix 2. Uncertain, Likely Pathogenic and Pathogenic RPGR Variants Detected at PreventionGenetics.

To access the data, click or select the words “Appendix 2.” Nucleotide and amino acid numbering for variants were based on transcript NM_001034853.2. The Novel column indicates whether the variant was included in any publication as of the time of manuscript preparation. Interpretations were assigned by PreventionGenetics 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 B (Benign), LB (Likely Benign), U (Uncertain), LP (Likely Pathogenic) and P (Pathogenic). The numbers in parentheses after the abbreviations are the number of separate ClinVar entries for each interpretation.