Mutation context: Chromosome 20, Gene RTEL1, RTEL1-TNFRSF6B (regulator of telomere elongation helicase 1| RTEL1-TNFRSF6B readthrough (NMD candidate)). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Dyskeratosis congenita, autosomal dominant 4