POLR3B NM_018082.6(POLR3B):c.1263+2T>C

CI-VAR-00089314Explore in graph →NM_018082.6:c.1263+2T>CClinVar 488794 rs774526181

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
488794	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism 7 with or without anosmia; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, IIA 1I; Thyroid cancer, nonmedullary, 1; POLR3B-related disorder	germline	8	Jun 12, 2025	clinvar