RRM2B NM_015713.5(RRM2B):c.48+48C>T

CI-VAR-00200049Explore in graph →NM_015713.5:c.48+48C>TClinVar 1256971 rs201028777

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
1256971	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5; Mitochondrial DNA depletion syndrome 8a; RRM2B-related disorder	germline	6	Nov 17, 2024	clinvar