A: The variant NC_000022.11:g.30614347A>G in gene TCN2 is classified as 'Pathogenic/Likely_pathogenic' for Transcobalamin_II_deficiency|Pancytopenia|not_provided. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010149,MedGen:C0342701,OMIM:275350,Orphanet:859|Human_Phenotype_Ontology:HP:0001876,MONDO:MONDO:0001529,MedGen:C0030312|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.