A: The variant NC_000020.11:g.764021_764022insGTCAATCAG in gene SLC52A3 is classified as 'Benign' for not_provided|not_specified|Brown-Vialetto-van_Laere_syndrome_1. Molecular consequence: SO:0001627: intron_variant. Variant type: Insertion. Disease database links: MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530,Orphanet:572543,Orphanet:97229. Review status: criteria provided, multiple submitters, no conflicts.