CC2D2A NM_001378615.1(CC2D2A):c.4179+1del

CI-VAR-00013735Explore in graph →NM_001378615.1:c.4179+1delClinVar 56312 rs386833760

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
56312	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Meckel syndrome, type 6; Joubert syndrome 9; Meckel-Gruber syndrome; Joubert syndrome; Renal cyst; Polydactyly; Anencephaly; Inborn genetic diseases; COACH syndrome 2; Retinitis pigmentosa 93; Nonpapillary renal cell carcinoma; CC2D2A-related disorder	germline	15	May 21, 2026	clinvar