EHHADH NM_001966.4(EHHADH):c.7G>A (p.Glu3Lys)

CI-VAR-00018311Explore in graph →p.Glu3LysNM_001966.4:c.7G>AClinVar 96711 rs398124646

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
96711	Likely pathogenic	criteria provided, single submitter	1	Fanconi renotubular syndrome 3; EHHADH-related disorders	germline	2	Nov 22, 2019	clinvar