ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1069+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465448 SCV002760138 pathogenic Pitt-Hopkins syndrome 2022-11-29 criteria provided, single submitter research

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