A: The variant NC_000019.10:g.45217554dup in gene EXOC3L2 is classified as 'Likely_pathogenic' for EXOC3L2-related_brain_malformations_and/or_renal_disease. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: .. Review status: criteria provided, single submitter.