A: The variant NC_000020.11:g.35497813C>T in gene CEP250 is classified as 'Uncertain_significance' for not_provided|Optic_atrophy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124. Review status: criteria provided, single submitter.