RAG1 NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)

CI-VAR-00014549Explore in graph →p.Arg975GlnNM_000448.3:c.2924G>AClinVar 68693 rs150739647

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
68693	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Severe combined immunodeficiency disease; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Combined immunodeficiency with skin granulomas; Combined immunodeficiency due to partial RAG1 deficiency; Histiocytic medullary reticulosis; Thyroid cancer, nonmedullary, 1	germline	8	Dec 22, 2025	clinvar