ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1838A>G (p.Gln613Arg)

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004776533 SCV005387899 uncertain significance Pitt-Hopkins syndrome 2024-03-18 criteria provided, single submitter clinical testing

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