Gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Oculomaxillofacial dysostosis