RTEL1 NM_001283009.2(RTEL1):c.1778_1781dup (p.Ser594fs)

CI-VAR-00335093Explore in graph →p.Ser594fsNM_001283009.2:c.1778_1781dupClinVar 2948710 rs2517122415

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
2948710	Pathogenic	criteria provided, single submitter	1	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	germline	1	Jun 09, 2023	clinvar