A: The variant NC_000020.11:g.35473975_35473984delinsCCT in gene CEP250 is classified as 'Pathogenic' for Cone-rod_dystrophy_and_hearing_loss_2. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0020780,MedGen:C5193051,OMIM:618358. Review status: criteria provided, single submitter.