MKS1 NM_017777.4(MKS1):c.190+2T>C

CI-VAR-00102241Explore in graph →NM_017777.4:c.190+2T>CClinVar 550954 rs375170572

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
550954	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Joubert syndrome 28; Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Meckel-Gruber syndrome; Joubert syndrome; MKS1-related disorder; Hepatocellular carcinoma	germline	13	Nov 27, 2025	clinvar