A: The variant NC_000022.11:g.27751039del in gene MN1 is classified as 'Uncertain_significance' for Atrial_septal_defect|Congenital_diaphragmatic_hernia|MN1_C-terminal_truncation_(MCTT)_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140|.. Review status: criteria provided, single submitter.