Variant · Snv
DHCR7 NM_001360.3(DHCR7):c.964-1G>C
CI-VAR-00018153Explore in graph →NM_001360.3:c.964-1G>CClinVar 93725 rs138659167
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 |
|---|---|---|---|---|---|---|---|---|
| 93725 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Smith-Lemli-Opitz syndrome; Inborn genetic diseases; DHCR7-related disorder; Acute myeloid leukemia; Malignant tumor of urinary bladder; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Uveal melanoma; Sarcoma; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Cholangiocarcinoma; Cervical cancer; Cystic renal disease; Thymoma; Melanoma; Familial cancer of breast | germline | 68 | Jun 16, 2026 | clinvar |