SBDS NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)

CI-VAR-00005309Explore in graph →p.Lys62TerNM_016038.4:c.183_184delinsCTClinVar 3195 rs113993991

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
3195	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Shwachman-Diamond syndrome 1; Inborn genetic diseases; Aplastic anemia; SBDS-related disorder; Shwachman syndrome; Non-Fanconi anemia cytopenia; Neutropaenia consistent with ELANE mutations; Fanconi anaemia or Bloom syndrome	germline	23	Mar 29, 2026	clinvar