CHD8 NM_001170629.2(CHD8):c.6130C>T (p.Arg2044Ter)

CI-VAR-00295269Explore in graph →p.Arg2044TerNM_001170629.2:c.6130C>TClinVar 2582437 rs772226664

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
2582437	Likely pathogenic	criteria provided, single submitter	1	Intellectual developmental disorder with autism and macrocephaly; Familial prostate cancer; Uterine corpus endometrial carcinoma	unknown	2	May 31, 2023	clinvar