A: The variant NC_000022.11:g.19723612_19723618delinsGAGTCCGGTCG in gene GP1BB is classified as 'Uncertain_significance' for Bernard_Soulier_syndrome. Molecular consequence: SO:0001627: intron_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274. Review status: reviewed by expert panel.