A: The variant NC_000022.11:g.50715048G>A in gene SHANK3 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Phelan-McDermid_syndrome|Neurodevelopmental_abnormality|Inborn_genetic_diseases. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0011652,MedGen:C1853490,OMIM:606232,Orphanet:48652|Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.