SDHD NM_003002.4(SDHD):c.57del (p.Leu20fs)

CI-VAR-00005648Explore in graph →p.Leu20fsNM_003002.4:c.57delClinVar 6917 rs587776649

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
6917	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Carney-Stratakis syndrome; Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paraganglioma; Cowden syndrome 3; Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 1; Mitochondrial complex 2 deficiency, nuclear type 3; Inherited phaeochromocytoma and paraganglioma excluding NF1	germline	11	May 06, 2026	clinvar