ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.655G>C (p.Asp219His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003334374 SCV004042690 likely pathogenic Pitt-Hopkins syndrome criteria provided, single submitter clinical testing

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