A: The variant NC_000020.11:g.62315100G>A in gene LAMA5 is classified as 'Uncertain_significance' for not_provided|Presynaptic_congenital_myasthenic_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MedGen:C0751884,Orphanet:98914. Review status: criteria provided, single submitter.