A: The variant NC_000022.11:g.28743904dup in gene HSCB is classified as 'Pathogenic' for Anemia,_sideroblastic,_5. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0030436,MedGen:C5561985,OMIM:619523. Review status: no assertion criteria provided.