DYSF NM_001130987.2(DYSF):c.3403-2A>G

CI-VAR-00031757Explore in graph →NM_001130987.2:c.3403-2A>GClinVar 196694 rs370874727

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
196694	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin; Autosomal recessive limb-girdle muscular dystrophy type 2B; Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy; Acute myeloid leukemia	germline	7	Jan 14, 2026	clinvar