A: The variant NC_000019.10:g.45363984_45363987delinsGGG in gene ERCC2 is classified as 'Likely_pathogenic' for Cerebrooculofacioskeletal_syndrome_2. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756. Review status: criteria provided, single submitter.