ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1915dup (p.Arg639fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV004666682 SCV005094585 likely pathogenic Pitt-Hopkins syndrome 2024-05-14 criteria provided, single submitter clinical testing

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