OTUD6B NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter)

CI-VAR-00055607Explore in graph →p.Arg115TerNM_016023.5:c.343C>TClinVar 375701 rs368313959

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
375701	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies; Dysmorphic features; Intellectual disability; Epilepsy; Inborn genetic diseases; Colorectal cancer	germline	8	Jun 12, 2024	clinvar