Variant · Snv
PSAP NM_002778.4(PSAP):c.1005+18C>T
CI-VAR-00018170Explore in graph →NM_002778.4:c.1005+18C>TClinVar 94084 rs55829339
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 |
|---|---|---|---|---|---|---|---|---|
| 94084 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Krabbe disease due to saposin A deficiency; Combined PSAP deficiency; Sphingolipid activator protein 1 deficiency; Malignant lymphoma, large B-cell, diffuse; Uterine carcinosarcoma; Cholangiocarcinoma; Hepatocellular carcinoma; Uveal melanoma | germline | 8 | Feb 04, 2026 | clinvar |