A: The variant NC_000020.11:g.57652299dup in gene PMEPA1 is classified as 'Uncertain_significance' for Hereditary_disorder_of_connective_tissue. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0023603,MedGen:C0410787. Review status: criteria provided, single submitter.