The gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Teebi hypertelorism syndrome