PTEN and PTEN hamartoma tumor syndrome: To better understand whether these low abundance variants without reduced yeast rescue activity scores were clinically important, we focused on the subset of low abundance PTEN variants classified as pathogenic in ClinVar, or associated with autism spectrum disorder (ASD) or PTEN Hamartoma Tumor Syndrome (PHTS) in a recently published cohort of well curated PTEN variant positive individuals seen at Cleveland Clinic (CC cohort) [12].