A: The variant NC_000019.10:g.45353335C>T in gene ERCC2 is classified as 'Pathogenic/Likely_pathogenic' for Cerebrooculofacioskeletal_syndrome_2|not_provided. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.