A: The variant NC_000020.11:g.21706962C>G in gene PAX1 is classified as 'Uncertain_significance' for not_provided|Otofaciocervical_syndrome_2|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014254,MedGen:C5442121,OMIM:615560|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.