RRM2B NM_015713.5(RRM2B):c.48+96G>C

CI-VAR-00022537Explore in graph →NM_015713.5:c.48+96G>CClinVar 138933 rs200373694

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
138933	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	RRM2B-related disorder; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Mitochondrial DNA depletion syndrome 8a	germline	6	Nov 26, 2024	clinvar