LRBA NM_001364905.1(LRBA):c.3748G>C (p.Ala1250Pro)

CI-VAR-00104564Explore in graph →p.Ala1250ProNM_001364905.1:c.3748G>CClinVar 569064 rs146423687

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
569064	Uncertain significance	criteria provided, single submitter	1	Combined immunodeficiency due to LRBA deficiency; Ovarian serous cystadenocarcinoma	germline	2	Jul 26, 2022	clinvar