A: The variant NC_000022.11:g.19724348_19724359dup in gene GP1BB is classified as 'Likely_pathogenic' for Bernard_Soulier_syndrome. Molecular consequence: SO:0001619: non-coding_transcript_variant,SO:0001821: inframe_insertion. Variant type: Duplication. Disease database links: MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274. Review status: criteria provided, single submitter.