A: The variant NC_000022.11:g.50730726_50730730dup in gene SHANK3 is classified as 'Pathogenic' for Neurodevelopmental_delay. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738. Review status: criteria provided, single submitter.