A: The variant NC_000020.11:g.63679947G>A in gene RTEL1 is classified as 'Pathogenic/Likely_pathogenic' for Dyskeratosis_congenita|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3|Dyskeratosis_congenita,_autosomal_recessive_5|Acute_myeloid_leukemia|Pulmonary_fibrosis. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human_Phenotype_Ontology:HP:0002206,Human_Phenotype_Ontology:HP:0006523,MONDO:MONDO:0002771,MedGen:C0034069. Review status: criteria provided, multiple submitters, no conflicts.