A: The variant NC_000020.11:g.23049210G>C in gene THBD is classified as 'Uncertain_significance' for Thrombomodulin-related_bleeding_disorder|Atypical_hemolytic-uremic_syndrome_with_thrombomodulin_anomaly. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013775,MedGen:C3280976,OMIM:614486,Orphanet:436169|MONDO:MONDO:0013044,MedGen:C2752036,OMIM:612926. Review status: criteria provided, single submitter.