A: The variant NC_000019.10:g.54188513del in gene MBOAT7 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_recessive_57. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014962,MedGen:C4310673,OMIM:617188. Review status: criteria provided, single submitter.