RTEL1 NM_001283009.2(RTEL1):c.1543G>A (p.Val515Ile)

CI-VAR-00219636Explore in graph →p.Val515IleNM_001283009.2:c.1543G>AClinVar 1403472 rs1246091092

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
1403472	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3; Dyskeratosis congenita, autosomal recessive 5; Inborn genetic diseases	germline	3	Apr 11, 2025	clinvar