LBR NM_002296.4(LBR):c.1640A>G (p.Asn547Ser)

CI-VAR-00037143Explore in graph →p.Asn547SerNM_002296.4:c.1640A>GClinVar 224875 rs374343844

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
224875	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia; Greenberg dysplasia; Reynolds syndrome; RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY; LBR-related disorder; Regressive spondylometaphyseal dysplasia; Acute myeloid leukemia	germline/somatic	9	Mar 09, 2026	clinvar