Variant · Snv
ABCA12 NM_173076.3(ABCA12):c.6648G>T (p.Arg2216Ser)
CI-VAR-00047073Explore in graph →p.Arg2216SerNM_173076.3:c.6648G>TClinVar 262832 rs145031776
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.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 262832 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Congenital ichthyosis of skin; Familial pancreatic carcinoma; Thyroid cancer, nonmedullary, 1 | germline | 5 | Feb 02, 2026 | clinvar |