RHBDF2 NM_001005498.4(RHBDF2):c.1346G>A (p.Arg449Gln)

CI-VAR-00306714Explore in graph →p.Arg449GlnNM_001005498.4:c.1346G>AClinVar 2678354 rs763844221

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
2678354	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Palmoplantar keratoderma-esophageal carcinoma syndrome	germline	3	Sep 10, 2025	clinvar