A: The variant NC_000022.11:g.45287453T>C in gene UPK3A is classified as 'Uncertain_significance' for not_provided. Molecular consequence: SO:0001575: splice_donor_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.