A: The variant NC_000021.9:g.46445349del in gene PCNT is classified as 'Uncertain_significance' for Microcephalic_osteodysplastic_primordial_dwarfism. Molecular consequence: SO:0001624: 3_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0000060,MedGen:CN294889. Review status: criteria provided, single submitter.