A: The variant NC_000019.10:g.45421375A>T in gene ERCC1 is classified as 'Uncertain_significance' for Cerebrooculofacioskeletal_syndrome_4. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012554,MedGen:C1853100,OMIM:610758. Review status: criteria provided, single submitter.