A: The variant NC_000020.11:g.63662589del in gene RTEL1 is classified as 'Pathogenic' for See_cases. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: .. Review status: criteria provided, single submitter.