A: The variant NC_000019.10:g.45421271del in gene ERCC1 is classified as 'Likely_pathogenic' for Cerebrooculofacioskeletal_syndrome_4. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0012554,MedGen:C1853100,OMIM:610758. Review status: criteria provided, single submitter.