Assess the clinical impact of this variant on gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Teebi hypertelorism syndrome 1