MITF NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)

CI-VAR-00006304Explore in graph →p.Arg324delNM_001354604.2:c.964AGA[2]ClinVar 14272 rs1553704814

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
14272	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Tietz syndrome; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; Waardenburg syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8; Monogenic hearing loss; MITF-related disorder	germline	10	Aug 06, 2025	clinvar