IGHMBP2 NM_002180.3(IGHMBP2):c.548-10T>G

CI-VAR-00042342Explore in graph →NM_002180.3:c.548-10T>GClinVar 235360 rs139207271

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
235360	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease axonal type 2S; IGHMBP2-related disorder; Sarcoma; Uterine corpus endometrial carcinoma; Cervical cancer	germline	10	Jan 19, 2026	clinvar