ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.991-2A>G

dbSNP: rs587784470
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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 RCV000147731 SCV000195196 pathogenic Pitt-Hopkins syndrome 2013-04-01 criteria provided, single submitter clinical testing

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