ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.808T>A (p.Ser270Thr)

dbSNP: rs2059992286
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262615 SCV001440550 uncertain significance Pitt-Hopkins syndrome 2019-01-01 criteria provided, single submitter clinical testing

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