ClinVar Miner

Submissions for variant NM_004431.5(EPHA2):c.41G>A (p.Trp14Ter)

dbSNP: rs2124283411
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Toulouse RCV002275250 SCV002097622 pathogenic Cataract; Bilateral microphthalmos; Congenital aniridia 2021-06-03 criteria provided, single submitter clinical testing

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