A: The variant NC_000020.11:g.428539_428540dup in gene RBCK1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Polyglucosan_body_myopathy_type_1. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Duplication. Disease database links: MedGen:C3661900|MONDO:MONDO:0014389,MedGen:C4014605,OMIM:615895,Orphanet:329173,Orphanet:397937. Review status: criteria provided, multiple submitters, no conflicts.