Here’s a variant in SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Teebi hypertelorism syndrome