A: The variant NC_000022.11:g.50676633del in gene SHANK3 is classified as 'Pathogenic' for Phelan-McDermid_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0011652,MedGen:C1853490,OMIM:606232,Orphanet:48652. Review status: criteria provided, single submitter.