ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1760C>T (p.Ala587Val)

dbSNP: rs1555710523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501849 SCV000597419 likely pathogenic Pitt-Hopkins syndrome 2016-03-17 criteria provided, single submitter clinical testing

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