A: The variant NC_000019.10:g.38585057_38585058delinsAC in gene RYR1 is classified as 'Likely_pathogenic' for RYR1-related_disorder|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: Indel. Disease database links: MedGen:CN239331|MedGen:C2674259|MedGen:C3661900. Review status: criteria provided, single submitter.