This alteration in SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Teebi hypertelorism syndrome 1