A: The variant NC_000020.11:g.21709331_21709335dup in gene PAX1 is classified as 'Likely_pathogenic' for Otofaciocervical_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014254,MedGen:C5442121,OMIM:615560. Review status: criteria provided, single submitter.