Variant · Snv
MED23 NM_004830.4(MED23):c.4080G>T (p.Val1360=)
CI-VAR-00070220Explore in graph →p.Val1360=NM_004830.4:c.4080G>TClinVar 432201 rs138742804
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 |
|---|---|---|---|---|---|---|---|---|
| 432201 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Intellectual disability, autosomal recessive 18; Inborn genetic diseases; MED23-related disorder; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Colon adenocarcinoma; Sarcoma; Thymoma; Ovarian serous cystadenocarcinoma; Hepatocellular carcinoma | germline | 5 | Feb 05, 2022 | clinvar |