TMEM67 NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)

CI-VAR-00005227Explore in graph →p.Ser320CysNM_153704.6:c.958A>TClinVar 1377 rs111619594

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
1377	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Bardet-Biedl syndrome 14, modifier of; Nephronophthisis; Joubert syndrome 6; Meckel syndrome, type 3; Nephronophthisis 11; RHYNS syndrome; Meckel-Gruber syndrome; Joubert syndrome; COACH syndrome 1; TMEM67-related disorder; Familial pancreatic carcinoma; Thyroid cancer, nonmedullary, 1	germline	17	Jan 11, 2026	clinvar