A: The variant NC_000022.11:g.50721257_50721258del in gene SHANK3 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Autism_spectrum_disorder|SHANK3-related_disorder|Phelan-McDermid_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106|.|MONDO:MONDO:0011652,MedGen:C1853490,OMIM:606232,Orphanet:48652. Review status: criteria provided, multiple submitters, no conflicts.