ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.145+1G>A

dbSNP: rs1555782724
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000519390 SCV000494284 likely pathogenic Pitt-Hopkins syndrome criteria provided, single submitter research This variant was identified, inherited from a confirmed mosaic mother, in an individual with atypical Pitt-Hopkins syndrome and Prader-Willi.

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