Variant · Indel
PTCH2 NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs)
CI-VAR-00113994Explore in graph →p.Val433fsNM_003738.5:c.1296_1305delinsCACCAClinVar 651390 rs1573648653
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 651390 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Gorlin syndrome; Basal cell nevus syndrome 1 | germline | 3 | Jun 18, 2026 | clinvar |