Variant · Snv
PHOX2B NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
CI-VAR-00037353Explore in graph →p.Ser184=NM_003924.4:c.552C>TClinVar 227015 rs17885216
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 |
|---|---|---|---|---|---|---|---|---|
| 227015 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Congenital central hypoventilation; Neuroblastoma, susceptibility to, 2; Hereditary cancer-predisposing syndrome; Haddad syndrome; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | germline | 15 | Jun 01, 2026 | clinvar |