A: The variant NC_000020.11:g.18555109del in gene SEC23B is classified as 'Pathogenic/Likely_pathogenic' for Congenital_dyserythropoietic_anemia,_type_II|Cowden_syndrome_7. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100,Orphanet:98873|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Orphanet:201. Review status: criteria provided, multiple submitters, no conflicts.