This variant lies on Chromosome 20 and affects the gene RTEL1, RTEL1-TNFRSF6B (regulator of telomere elongation helicase 1| RTEL1-TNFRSF6B readthrough (NMD candidate)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Dyskeratosis congenita, autosomal recessive 5