RSPH1 NM_080860.4(RSPH1):c.275-2A>C

CI-VAR-00014485Explore in graph →NM_080860.4:c.275-2A>CClinVar 66990 rs151107532

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
66990	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Primary ciliary dyskinesia 24; Kartagener syndrome; Primary ciliary dyskinesia; RSPH1-related disorder; Familial cancer of breast; Ovarian serous cystadenocarcinoma	germline	18	Jan 27, 2026	clinvar