PKHD1 NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)

CI-VAR-00005395Explore in graph →p.Thr36MetNM_138694.4:c.107C>TClinVar 4108 rs137852944

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
4108	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Autosomal recessive polycystic kidney disease; Colorectal cancer, protection against; Polycystic kidney disease; Oligohydramnios; Periportal fibrosis; Autosomal dominant polycystic liver disease; Polycystic kidney disease 4; PKHD1-related disorder; Inborn genetic diseases; Renal cyst; Cystic renal disease	germline	56	Jun 19, 2026	clinvar