JAK3 NM_000215.4(JAK3):c.308+2T>C

CI-VAR-00318976Explore in graph →NM_000215.4:c.308+2T>CClinVar 2768381 rs2514580420

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
2768381	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	T-B+ severe combined immunodeficiency due to JAK3 deficiency; Thyroid cancer, nonmedullary, 1	germline	4	Apr 29, 2026	clinvar