A: The variant NC_000020.11:g.43642547C>T in gene IFT52 is classified as 'Uncertain_significance' for not_specified|Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374|MONDO:MONDO:0014915,MedGen:C4310718,OMIM:617102. Review status: criteria provided, multiple submitters, no conflicts.