A: The variant NC_000019.10:g.45352210del in gene ERCC2 is classified as 'Pathogenic' for Cerebrooculofacioskeletal_syndrome_2|Xeroderma_pigmentosum|not_provided. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.