A: The variant NC_000019.10:g.50480732del in gene EMC10 is classified as 'Likely_pathogenic' for Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0031011,MedGen:C5543268,OMIM:619264. Review status: criteria provided, single submitter.