A: The variant NC_000020.11:g.419695GGCG[3] in gene RBCK1 is classified as 'Pathogenic' for Polyglucosan_body_myopathy_1_without_immunodeficiency|Polyglucosan_body_myopathy_type_1. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Microsatellite. Disease database links: MedGen:C4017232|MONDO:MONDO:0014389,MedGen:C4014605,OMIM:615895,Orphanet:329173,Orphanet:397937. Review status: criteria provided, single submitter.