PTCH1 NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe)

CI-VAR-00104869Explore in graph →p.Leu317PheNM_000264.5:c.949C>TClinVar 578248 rs1380199153

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
578248	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Gorlin syndrome; Hereditary cancer-predisposing syndrome; Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7	germline	3	Jun 03, 2025	clinvar