A: The variant NC_000019.10:g.45352354T>G in gene ERCC2 is classified as 'Likely_pathogenic' for Cerebrooculofacioskeletal_syndrome_2. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756. Review status: criteria provided, single submitter.