A: The variant NC_000020.11:g.21709279T>G in gene PAX1 is classified as 'Uncertain_significance' for Otofaciocervical_syndrome_2. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014254,MedGen:C5442121,OMIM:615560. Review status: criteria provided, single submitter.