A: The variant NC_000020.11:g.10275525GAG[1] in gene SNAP25 is classified as 'Uncertain_significance' for Congenital_myasthenic_syndrome_18. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590. Review status: criteria provided, single submitter.