A: The variant NC_000019.10:g.45355729C>G in gene ERCC2 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Cerebrooculofacioskeletal_syndrome_2|Trichothiodystrophy. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0018053,MedGen:C1955934,OMIM:PS601675,Orphanet:33364. Review status: criteria provided, multiple submitters, no conflicts.