A: The variant NC_000022.11:g.19724240G>C in gene GP1BB is classified as 'Pathogenic' for Macrothrombocytopenia,_familial,_Bernard-Soulier_type. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C4016131. Review status: no assertion criteria provided.