Variant · Snv
DYNC1H1 NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
CI-VAR-00020376Explore in graph →p.Gly1331=NM_001376.5:c.3993C>TClinVar 128937 rs17540957
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 |
|---|---|---|---|---|---|---|---|---|
| 128937 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Charcot-Marie-Tooth disease axonal type 2O; Autosomal dominant cerebellar ataxia; Charcot-Marie-Tooth disease; Inborn genetic diseases; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Intellectual disability, autosomal dominant 13; Lung cancer; Malignant tumor of esophagus | germline | 12 | Feb 03, 2026 | clinvar |