ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1777_1779del (p.Arg593del)

dbSNP: rs587784461
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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 RCV000147717 SCV000195181 uncertain significance Pitt-Hopkins syndrome 2014-04-18 criteria provided, single submitter clinical testing

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