Variant · Snv
COL7A1 NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
CI-VAR-00093029Explore in graph →p.Gly636ValNM_000094.4:c.1907G>TClinVar 502658 rs116005007
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 502658 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Epidermolysis bullosa dystrophica; Epidermolysis bullosa dystrophica inversa, autosomal recessive; COL7A1-related disorder; Gastric cancer; Ovarian cancer; Uterine corpus endometrial carcinoma; Familial pancreatic carcinoma; Sarcoma; Cervical cancer | germline | 15 | Feb 01, 2026 | clinvar |