A: The variant NC_000019.10:g.45413724C>T in gene ERCC1 is classified as 'Conflicting_classifications_of_pathogenicity' for Cerebrooculofacioskeletal_syndrome_4|not_provided|ERCC1-related_disorder. 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, conflicting classifications.