ELN NM_000501.4(ELN):c.2086+5G>C

CI-VAR-00033230Explore in graph →NM_000501.4:c.2086+5G>CClinVar 213167 rs111866046

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
213167	Benign	criteria provided, multiple submitters, no conflicts	2	Supravalvar aortic stenosis; Williams syndrome; Cutis laxa, autosomal dominant 1; Colon adenocarcinoma; Malignant tumor of esophagus; Ovarian serous cystadenocarcinoma; Lung cancer; Clear cell carcinoma of kidney	germline	10	Feb 02, 2026	clinvar