EMD NM_000117.3(EMD):c.430G>T (p.Glu144Ter)

CI-VAR-00080983Explore in graph →p.Glu144TerNM_000117.3:c.430G>TClinVar 462824 rs1557182560

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
462824	Pathogenic	criteria provided, multiple submitters, no conflicts	2	X-linked Emery-Dreifuss muscular dystrophy; Thyroid cancer, nonmedullary, 1	germline	3	Feb 09, 2022	clinvar