Variant · Snv
KMT2D NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=)
CI-VAR-00018174Explore in graph →p.Ser4548=NM_003482.4:c.13644C>TClinVar 94167 rs201119371
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 |
|---|---|---|---|---|---|---|---|---|
| 94167 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Kabuki syndrome; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Melanoma; Malignant tumor of urinary bladder; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Familial cancer of breast; Gastric cancer; Thyroid cancer, nonmedullary, 1; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma | germline | 8 | Jun 01, 2026 | clinvar |