ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)

gnomAD frequency: 0.00001  dbSNP: rs121909391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001682704 SCV001905599 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
OMIM RCV000001372 SCV000021522 pathogenic Congenital hereditary endothelial dystrophy of cornea 2008-03-01 no assertion criteria provided literature only
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute RCV000001372 SCV002586375 likely pathogenic Congenital hereditary endothelial dystrophy of cornea 2022-08-07 no assertion criteria provided case-control Opaque cornea with reduced visual acuity

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