ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1411C>T (p.Gln471Ter)

dbSNP: rs797046033
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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 RCV000195129 SCV000249128 pathogenic Pitt-Hopkins syndrome 2014-09-11 criteria provided, single submitter clinical testing

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