ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.693_697dup (p.Val233fs)

dbSNP: rs1572153816
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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 RCV000993697 SCV000998911 pathogenic Anterior segment dysgenesis 7 2019-07-19 criteria provided, single submitter clinical testing

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