Variant · Snv
P3H1 NM_022356.4(P3H1):c.2055+17C>T
CI-VAR-00055990Explore in graph →NM_022356.4:c.2055+17C>TClinVar 379445 rs67014447
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 |
|---|---|---|---|---|---|---|---|---|
| 379445 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Osteogenesis imperfecta type 8; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Uveal melanoma; Familial pancreatic carcinoma; Sarcoma; Uterine carcinosarcoma; Ovarian cancer; Colorectal cancer; Lymphoma; Thymoma; Adrenocortical carcinoma, hereditary; Cholangiocarcinoma; Acute myeloid leukemia; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma | germline | 6 | Feb 04, 2026 | clinvar |