A: The variant NC_000022.11:g.41584045C>T in gene PMM1 is classified as 'Likely_pathogenic' for Global_developmental_delay,_absent_or_hypoplastic_corpus_callosum,_and_dysmorphic_facies. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014994,MedGen:C4310644,OMIM:617260. Review status: no assertion criteria provided.