A: The variant NC_000023.11:g.13767285del in gene OFD1 is classified as 'Likely_pathogenic' for Simpson-Golabi-Behmel_syndrome. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0010731,MedGen:C4317043,Orphanet:373. Review status: criteria provided, single submitter.