TMEM70 NM_017866.6(TMEM70):c.317-2A>G

CI-VAR-00005155Explore in graph →NM_017866.6:c.317-2A>GClinVar 540 rs183973249

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
540	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; Neurodevelopmental disorder; TMEM70-related disorder; Nonpapillary renal cell carcinoma; Papillary renal cell carcinoma type 1	germline	27	May 23, 2026	clinvar