A: The variant NC_000020.11:g.2862936T>C in gene VPS16 is classified as 'Likely_pathogenic' for VPS16-related_disorder|not_provided. Molecular consequence: SO:0001575: splice_donor_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: .|MedGen:C3661900. Review status: criteria provided, single submitter.