ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.332T>C (p.Phe111Ser)

dbSNP: rs1729003669
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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 RCV001269467 SCV001449120 likely pathogenic Anterior segment dysgenesis 4 2020-11-26 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3

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