A: The variant NC_000021.9:g.46132536_46132539delinsACCA in gene COL6A2 is classified as 'Uncertain_significance' for Congenital_muscular_dystrophy. Molecular consequence: SO:0001583: missense_variant. Variant type: Indel. Disease database links: Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242. Review status: criteria provided, single submitter.