ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro)

dbSNP: rs121909123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000007799 SCV000195179 pathogenic Pitt-Hopkins syndrome 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000007799 SCV000028000 pathogenic Pitt-Hopkins syndrome 2008-11-01 no assertion criteria provided literature only

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