PAX3 NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)

CI-VAR-00093105Explore in graph →p.Glu194LysNM_181458.4:c.580G>AClinVar 504786 rs148454691

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.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
504786	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Craniofacial-deafness-hand syndrome; Alveolar rhabdomyosarcoma; Waardenburg syndrome type 3; Waardenburg syndrome type 1; Waardenburg syndrome	germline	8	Jul 30, 2025	clinvar