A: The variant NC_000019.10:g.45413721A>G in gene ERCC1 is classified as 'Uncertain_significance' for Cerebrooculofacioskeletal_syndrome_4|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012554,MedGen:C1853100,OMIM:610758|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.