A: The variant NC_000019.10:g.50479058C>T in gene EMC10 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures|Inborn_genetic_diseases|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0031011,MedGen:C5543268,OMIM:619264|MeSH:D030342,MedGen:C0950123|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.