question: Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 57204766, gene RSPRY1 (ring finger and SPRY domain containing 1). What disease(s) is it linked to if pathogenic?
answer: pathogenic; ['Progressive_spondyloepimetaphyseal_dysplasia-short_stature-short_fourth_metatarsals-intellectual_disability_syndrome']