RTEL1 NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)

CI-VAR-00100495Explore in graph →p.Met320ThrNM_001283009.2:c.959T>CClinVar 540945 rs143550996

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
540945	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3; Dyskeratosis congenita, autosomal recessive 5; Dyskeratosis congenita	germline	8	Feb 02, 2026	clinvar