ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.2366dup (p.Ala790fs)

dbSNP: rs2514517017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute RCV002293387 SCV002586373 pathogenic Congenital hereditary endothelial dystrophy of cornea 2022-08-07 criteria provided, single submitter case-control Opaque cornea with reduced visual acuity. This change was observed with the other variant (NM_032034.4:c.[481A>C]).

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