A: The variant NC_000020.11:g.63667545G>T in gene RTEL1 is classified as 'Likely_pathogenic' for Action_myoclonus-renal_failure_syndrome. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696. Review status: criteria provided, single submitter.