Variant · Snv
HEPHL1 NM_001098672.2(HEPHL1):c.3390G>A (p.Thr1130=)
CI-VAR-00338646Explore in graph →p.Thr1130=NM_001098672.2:c.3390G>AClinVar 3038344 rs118037969
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 |
|---|---|---|---|---|---|---|---|---|
| 3038344 | Benign | criteria provided, single submitter | 1 | HEPHL1-related disorder; Acute myeloid leukemia; Adrenocortical carcinoma, hereditary; Lung cancer; Cervical cancer; Gastric cancer; Ovarian serous cystadenocarcinoma | germline | 3 | Dec 01, 2025 | clinvar |